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A previously healthy 34-year-old Korean female was admitted to a regional hospital for fever, myalgia and severe headache that had started 2 weeks ago. Brain MRI showed a high T2 signal intensity change and diffuse swelling of the right temporal lobe, insula and hippocampus (Fig. ). Lumbar puncture showed lympho-dominant pleocytosis. The patient was started on intravenous (iv) dexamethasone and acyclovir under a high suspicion of viral encephalitis.\nShe was transferred to our institution 4 days later due to persistent headache despite treatment. A noncontrast computed tomography (CT) brain scan taken at our institution showed a hemorrhagic transformation of the right temporal lobe, which was not observed on the initial MRI (Fig. ). Follow-up lumbar puncture showed 510 white cells per mm3 (82% lymphocytes), 144 mg/dL protein and 61 mg/dL glucose. CSF culture studies were negative for bacteria, fungi and tuberculosis. PCR of the CSF confirmed the presence of HSV1. The patient was free of neurological symptoms, with a Glasgow Coma Scale of E4M6V5, and was admitted for close observation and continuation of iv acyclovir. Corticosteroid treatment was discontinued upon her admission. On day 3 of hospitalization, the patient presented with a sudden onset of vomiting and severe headache. Brain CT showed an increased amount of temporal lobe hemorrhage and a leftward shift in the midline (Fig. ). Mannitol was administered but did not seem to have a significant effect. The patient became increasingly drowsy, and her right pupil became dilated. She underwent emergency right decompressive craniectomy, expansile duraplasty and ICP monitor insertion. Postoperative brain CT showed alleviation of midline shifting (Fig. ). The patient recovered fully 5 days after the surgery. Apart from mild intermittent headache and dizziness, she did not show any other significant clinical symptoms, including neuropsychological problems. There were no significant neurologic deficits upon neurological examinations performed by the attending neurosurgeon and neurologist. The patient was discharged after completion of 2 weeks of acyclovir and returned 2 months later for cranioplasty. She was followed up 3 more times after cranioplasty. She was stable, without any neuropsychological problems or neurologic deficits, and was able to successfully return to work as a public official. |
A previously well 87-year-old Caucasian woman living in a senior assisted care center presented to the neurology clinic with complaints of six months of slowly progressing left sided weakness. Initial difficulty in ambulating and using the stairs progressed to being wheelchair bound. Neurologic exam revealed diffuse 3/5 left sided weakness, left leg drift, and left facial droop. Brain magnetic resonance imaging (MRI) revealed a large confluent white matter T2-hyperintensity in the right frontal lobe with multifocal nodular enhancement of the left cerebral hemisphere (). Foci of enhancement were also identified in the cerebellum and leptomeninges. The radiologic differential diagnosis included vasculitis, lymphoma, and CNS sarcoidosis as the most probable causes of the multifocal disease process, with glial neoplasm, demyelination, and metastases considered less likely.\nAll sample analysis described below were performed on material obtained by brain biopsy as part of clinical care. All samples were obtained with appropriate consent.\nA biopsy of the mass was performed and revealed extensive parenchymal lakes and vascular and perivascular deposition of amorphous, amyloid like material (). Congo-red positive staining and apple-green birefringence (not shown) of the amorphous material upon polarization confirmed that the amorphous material was amyloid (). Also present in the resected tissue were a number of small intraparenchymal blood vessels with perivascular lymphoplasmacytic infiltrates (). The initial histologic differential diagnoses included cerebral amyloid angiopathy-inflammatory type (CAA-I) and lymphoma associated amyloidoma. To identify the underlying etiology of the amyloid accumulation, a number of additional analyses were performed.\nLiquid chromatography tandem mass spectroscopic analysis identified the amyloid as AL λ-type and not β amyloid or an amyloid associated with a hereditary amyloidosis. Further analysis of the perivascular lymphoid populations was undertaken. Histologically, the monotonous populations of perivascular lymphoid cells demonstrated a lymphoplasmacytic appearance (). Immunohistochemical analysis demonstrated that the lymphoid cells were CD20 positive (). Tumor cells were negative for CD3, CD5, BCL1, and CD23. The tumor Ki67 proliferation index was low (3%). The more plasmacytoid appearing cells were CD138 positive and were shown to be lambda light chain restricted by kappa and lambda chromogenic in situ analysis (Figures and ). An immunoglobulin heavy chain (IgH) gene rearrangement analysis of the brain tissue from this case was positive for a clonal process with a 253-base pair peak in the FR2 region. A MYD88 L265P mutation analysis by PCR-based pyrosequencing on the brain tissue from this case was negative. A diagnosis of a low grade, lymphoplasmacytic lymphoma (LPL) was rendered. The identification of this CNS low grade lymphoplasmacytic lymphoma confirmed the cause of the amyloidoma to be a lambda light chain producing lymphoplasmacytic lymphoma.\nTo determine if an extracranial/systemic lymphoplasmacytic lymphoma was the source of the CNS neoplasm, a bone marrow biopsy was performed. The bone marrow biopsy showed normal trilineage hematopoiesis and no evidence of lymphoma, myeloma, or amyloidosis. Cytogenetics and fluorescent in situ hybridization studies on the bone marrow were negative for genetic aberrations. Urine protein and serum immunoglobulin levels were within normal limits. A biopsy of subcutaneous abdominal adipose tissue was negative for amyloid, demonstrating lack of evidence of systemic amyloid deposition. Interestingly, an IgH gene rearrangement analysis on the bone marrow was positive for a clonal gene rearrangement with two peaks: a 282-base pair peak in FR2 region and a 120-base pair peak in FR3 region in a polyclonal background, which importantly were markedly different from the IgH gene rearrangement identified in the CNS lymphoplasmacytic lymphoma. Since the two-small bone marrow clonal peaks are present in a polyclonal background, their significance is uncertain and may be age related.\nOur patient received one cycle of chemotherapy with Rituximab for Primary CNS lymphoplasmacytic lymphoma. Two months after diagnosis, she developed a hemorrhagic infarct on the left frontal white matter and was transferred to hospice care. |
A 14-year-old boy visited the ear, nose, and throat (ENT) outpatient department of our center, with a history of left-sided nasal obstruction gradually progressive over a period of 1 year, with recurrent history of associated rhinorrhea. There was no history of epistaxis or any other ENT complaints, and the patient’s past medical history and family history were insignificant.\nOn anterior rhinoscopy, a single polypoidal mass was seen filling the left nasal cavity extending up to the vestibule. The mass was firm in consistency, insensitive to touch and pain, and did not bleed upon touch. General and systemic examinations and an examination of the rest of the ENT were all within normal limits. A contrast-enhanced computed tomography (CT) scan showed a homogenous soft tissue lesion measuring 44×68×12 mm in the left nasal cavity, extending posteriorly into the nasopharynx ().\nThe mass extended superiorly into the left ethmoid air cells up to the cribriform plate with its thinning and breach. The rest of the sinuses was clear. On contrast study, there was heterogeneous enhancement. Based on the CT findings of the anterior skull base breach, gadolinium-enhanced magnetic resonance imaging (MRI) was performed to rule out intracranial extension, and revealed small sub-centimeter focus posteriorly without any significant intracranial extension ().\nRigid endoscopy was carried out and the mass was seen attached to the anterior part of the nasal septum. A punch biopsy was taken, which presented as an inflammatory polyp.\nThe patient was referred for standard endoscopic sinus surgery under general anesthetic after providing informed consent. The mass was removed endoscopically, and was seen to be extending intracranially but extradurally. Complete resection of the tumor was achieved and while managing the tumor in the region of the cribriform plate, there was an obvious CSF leak. The site of leakage was identified and closed using an underlay technique with septal cartilage, fascia lata, and tissue glue. The intra-operative blood loss was minimal.The post-operative recovery period was uneventful. Histopathology of the excised specimen showed the tumor mass lined by pseudostratified columnar epithelium with squamous metaplasia. The subepithelial tissue was composed of loose myxoid areas with mature adipose tissues and foci of cartilage. Foci of neuroepithelial cells occupying more than four low-power fields were seen. Grade 3 immature teratoma was given as final diagnosis (-).\nAdjuvant chemotherapy was started based on the histological grading, with four cycles of bleomycin, etoposide, and cisplatin. A regular follow-up for a period of 2 years showed no signs of recurrence. |
Our patient was a 24-year-old, single male, working as an accountant in a bank. He presented initially to a physician with complaints of nonspecific diffuse headaches, which had started one year before. In view of working on computers, an ophthalmologist's evaluation was advised, which was reported as normal. An otorhinolaryngologist's opinion ruled out the possibility of other causes for headache. A neurologist consultation ruled out any intracranial causes for his headache. He was prescribed pain relief medications that provided transient relief, for few minutes only. Subsequently, he was referred to us for psychiatric assessment of the headache. A thorough clinical history revealed the concurrent presence of pervasive sadness, easy fatigability, lack of interest in his daily activities, decreasing appetite associated with poor quality of sleep, poor attention and concentration, pessimism about the future, along with the presenting symptom of headache. There were no life stressors, suicidal ideas, or psychotic symptoms. His birth and developmental history was normal and there was no past history of alcohol or other substance-use disorders, epilepsy, head injury, or any dental problems. He was not a known hypertensive and not on any medications for other medical illnesses, which could adversely produce headache-like symptoms. Hence, a diagnosis of severe depression without psychotic symptoms was made, according to ICD-10. As the headache was the presenting symptom, a magnetic resonance imaging (MRI) brain scan was carried out, to rule out the possibility of any intracranial space-occupying lesion. Surprisingly, the MRI of the brain showed a lobulated hyperintense temporal lobe mass of size 2.7 × 2.2 mm, in the hippocampus region, which the radiologist reported as suggestive of DNET [Figures and ].\nA repeat neurologist opinion was sought to rule out the possibility of temporal lobe epilepsy as the etiology of the headache. Electroencephalography was obtained and it showed a normal EEG pattern. A neurosurgery consultation recommended no surgical intervention due to the absence of epilepsy and any intracranial compression effects of the brain or ventricles. Further investigations like blood sugar, electrolytes, hemogram, liver function tests, and thyroid profile, were all within normal limits. In this background, we started him on Tablet Escitalopram 10 mg once daily. After four weeks of this treatment, the Hamilton Depression Rating score dropped from 29 at baseline to 12 after treatment, with no adverse effects of medications reported. Subjectively, the patient reported complete relief of headache and improved mood levels. His attention and concentration was better at work. He has been maintained on the same dose of Escitalopram for the past four months, and the initial improvement has not worsened. There is no evidence of epilepsy or evidence of raised intracranial tension now. A repeat MRI brain revealed absolutely no change in the DNET tumor diagnosed initially. |
A 51-year-old male was diagnosed with muscle-invasive urothelial cell carcinoma in May 2015. Standard neoadjuvant chemotherapy was given followed by radical cystoprostatectomy. Final pathology showed pT3 N0 M0, stage III disease. He remained disease free until April 2016, at which point he developed new exertional dyspnea and a small lung nodule was noted on imaging. During cardiac clearance for a biopsy, a Mobitz 2 heart block with bradycardia was noted. Transthoracic echocardiogram (ECG) demonstrated a mass in the right ventricular outflow tract, which was additionally found to be fluorodeoxyglucose (FDG)-avid on positron emission tomography (PET) computed tomography (CT) (Figure , upper panel).\nThe patient developed progressive dyspnea with minimal exertion and then experienced a syncopal episode prompting hospitalization. Biopsy of the right ventricular mass demonstrated poorly differentiated carcinoma, consistent with urothelial origin (Figure ).\nThe mass was not felt to be respectable and chemotherapy was not felt to offer rapid disease control in the setting of progressive symptoms. He was offered palliative radiotherapy. His bradycardia progressed to a complete heart block, likely due to the growth of the mass, necessitating placement of a dual chamber pacemaker. The right ventricle mass was treated with 45 Gy in 18 fractions (3D conformal photons for 5 fractions, followed by intensity-modulated radiotherapy for the remaining 13 fractions (to reduce dose to the left ventricle). Figure demonstrates the dose distribution.\nProton radiation was considered to spare the uninvolved myocardium. He had substantial tumor thromboembolic disease to his lungs during radiotherapy, requiring medical intensive care unit (MICU) admission for symptom management. He ultimately completed the full course of radiotherapy which improved his functional status.\nFollowing radiotherapy, he began immune checkpoint therapy with the PD-L1 antagonist atezolizumab (1200 mg every three weeks), which was well tolerated. A PET/CT scan seven months after completing radiation demonstrated a complete metabolic response in the right ventricle mass and no other sites of progression (Figure , lower panel). The previously noted pulmonary nodules were stable. He resumed normal activity and returned to work. Eight months after radiotherapy and six months into his immune therapy, he developed progressive shortness of breath. He had heart failure and the ejection fraction reduced to 20%-30%. Cardiac magnetic resonance imaging (MRI) revealed a focal area of subendocardial delayed enhancement, potentially representing myocarditis. Cardiac catheterization revealed extensive coronary artery disease and complete occlusion of the right coronary artery; however, the left to right collaterals were intact. Atezolizumab was held with an initiation of high dose steroids to treat potential immune-mediated myocarditis with minimal effect. Electrophysiology testing demonstrated severe cardiac dyssynchrony. Cardiac resynchronization therapy was recommended and a biventricular pacer was placed with rapid symptom relief. He returned to work with overall minimal symptoms. Atezolizumab was resumed, and a total of 18 cycles (54 weeks) of therapy were completed without issue.\nIn the months that followed the placement of his biventricular pacer, he was evaluated several times for shortness of breath and atypical chest pain, however with no clear etiology. PET/CT imaging in August 2017 demonstrated increased FDG-avidity in his right ventricle concerning for progression. An MRI was ordered and in early September 2017, he was admitted for workup of an exacerbation of chest pain. A contrast-enhanced CT of the chest showed significant disease progression in the area of prior treatment, extension toward the left ventricle and along the heart wall leading to increased right heart pressure (Figure ), and probable encasement of his left anterior descending (LAD) artery by disease progression (Figure ). He had acute progression of chest pain associated with an increased oxygen requirement, shortly after being admitted. His ECG showing ST elevations in the anterior leads, consistent with an LAD infarct (Figure ). The cardiology service was consulted to consider palliative LAD stenting; however, the patient underwent cardiac arrest in the interim and did not wish to be resuscitated. He died 17 months after his disease recurrence. |
A 98-year-old woman suffered a left-sided femoral neck fracture caused by a fall and presented for a hip hemiarthroplasty. Her medical record shows paroxysmal atrial fibrillation, hypertension, recurrent complaints attributed to cardiac decompensation, a cardiac murmur and hypoxemic chronic obstructive pulmonary disease (COPD), global initiative for chronic obstructive lung disease (GOLD) classification stage II (moderate severity), for which she received supplemental oxygen therapy at home. Her symptoms of dyspnea have remained constant over the last few weeks. She had contracted pulmonary tuberculosis in the past and had recently been treated with an antibiotic and prednisolone because of recurrent pneumonia and COPD exacerbation. Over the last few years the number of falls she sustained had increased.\nAdditional medication consisted of a loop diuretic, calcium channel inhibitor, nebulized combination of a β2-agonist and an anticholinergic agent, and acetaminophen. She took no antiplatelet drugs or vitamin-K antagonists.\nOn physical examination she had a respiratory frequency of 17 per minute, peripheral oxygen saturation (SpO2) 92% with nasal administration of O2 at two liters per minute. Blood pressure was 144/72 mmHg and heart rate 81 beats per minute (bpm). A cardiac murmur was heard over the chest. Electrocardiography showed a normal sinus rhythm.\nThe transthoracic echocardiogram revealed a moderate aortic valve stenosis and a hypertrophied left ventricle with a good systolic function.\nBecause of the patients advanced age, aortic valve stenosis and the kind of surgery required, we formulated a plan to pursue a hemodynamic situation within normal limits for this patient with minimal impact on pulmonary and cerebral function. We decided to provide adequate regional anesthesia by CSA.\nWe undertook this procedure starting an hour before surgery at the postanesthesia care unit (PACU) with monitoring of pulse, ECG, and blood pressure. In a complete sterile manner with the patient in a sitting position we introduced an 18-gauge Tuohy needle (Perican; B. Braun Melsungen AG, Melsungen, Germany) in the midline at the level of the spinous process of the third and fourth lumbar vertebrae. After we punctured the duramater and observed a free flow of spinous fluid, we introduced a 20 gauge, 104 cm catheter (Perifix Softtip; B.Braun), and five centimeters intrathecally. This catheter was connected to an antimicrobial filter (Perifix; B.Braun), flushed with normal saline (NaCl 0.9%), and fixed to the patients back with adhesive film and tape. This procedure using these materials describes the standard operating procedure to introduce an intrathecal catheter for CSA in our institution.\nApproximately 45 minutes before surgery we administered 0.5 mL of a 0.5% isobaric bupivacaine solution (2.5 mg; AstraZeneca, London, United Kingdom). Fifteen minutes later we administered another 0.25 mL (1.25 mg) of this solution. To assess the extent of sensory blockade a refrigerated metal “hammer” was used. The patient was able to adequately report cold sensation while touching the skin of the thorax, abdomen, and upper legs on both sides of the body, moving in a craniocaudal direction. Five minutes after having administered the second dose of the local anesthetic agent we tested sensory blockade and determined it to be symmetrically at the level of the eleventh thoracic dermatome and below. After this we introduced a urinary catheter and placed the patient in the right dependent position and surgery commenced.\nAn hour after the second dose of bupivacaine we administered a third dose of 0.5 mL (2.5 mg) and another hour later a fourth dose of 0.5 mL. Upon completion of the surgery and 50 minutes after the last dose of bupivacaine, we removed the spinal catheter. Immediately prior to removing the catheter we injected 10 mL of normal saline to reduce the risk of developing PDPH and the patient was transported to the PACU.\nDuring surgery all monitored physiological variables stayed within normal values. We administered 500 mL of a colloidal solution and 250 mL of normal saline. The course of surgery was as planned. Blood loss was 500 milliliters.\nFifteen minutes after removal of the catheter her blood pressure decreased to a minimum of 75/35 mmHg with a heart rate of 80 bpm. After administration of up to a total of 350 μg of phenylephrine, her pulse slowed to 60 bpm and blood pressure improved. Examination revealed an unexpected symmetric sensory blockade at the third thoracic dermatome and below. She reported no pain and was unable to move her legs and feet.\nBesides frequent hemodynamic monitoring, sensory blockade was monitored every 15 minutes. We considered requesting a magnetic resonance imaging scan to rule out an epidural hematoma being a deleterious side effect of introducing or removing neuraxial catheters. Fortunately 130 minutes after the first occurrence of high sensory blockade and hypotension, sensory blockade finally regressed to a level below the sixth thoracic dermatome. Thereafter motor and sensory blockade regressed swiftly.\nPain after regression of the blockade was successfully treated with fragmented doses of intravenous morphine.\nThe patient was discharged on the fifth day after surgery after an otherwise uneventful hospital stay. She never complained about headaches. |
A 6-year-old girl patient presented to the ER (emergency room) with an intense abdominal pain accompanied by pallor, vomiting, sweating and hematuria. The abdominal ultrasound revealed the presence of a nodular lesion in the left kidney and local hemorrhage. Her medical history was unremarkable except for occasional self-limited episodes of mild headache. She had normal developmental milestones, a satisfactory school performance and brisk dancing skills. Some family members were diagnosed with carcinomas, all with adult-onset. At admission, her physical examination was remarkable for abdominal tenderness without any evident neurological deficits. The abdominal CT scan ruled out acute arterial bleeding and an MRI confirmed a tumor in the upper pole of the left kidney with extensive intracapsular hemorrhage, suggestive of a Wilms’ tumor (Fig. panel a). Due to the episodes of headache, the initial workup was extended with a brain MRI that the presence of a fairly large left supratentorial tumor with high cellularity and vascularization, features suggestive of high-grade neoplasia (Fig. panel b). There was no evidence of leptomeningeal, lung, or systemic dissemination. Deeper neurological examination revealed full right hemianopia, which had been detected to that moment.\nSince the renal hemorrhage improved spontaneously during the initial evaluation period, the cerebral tumor surgery was prioritized. The initial neurosurgery could only achieve a partial resection due to the high vascularity and extremely hard texture of the tumor, requiring intraoperative transfusional support. Postoperative hydrocephalus required a ventriculo-peritoneal shunt. The CT scan after the shunt procedure showed a highly calcified tumor (Fig. , panel c). The histological analysis identified a choroidal plexus tumor composed of well-differentiated papillary pattern covered by cells with nuclear pleomorphism and cytological atypia, but no evidence of solid pattern, mitotic figures or necrosis were identified (). Intense p53 nuclear staining was identified by immunohistochemistry (IHC) in the near-totality of cells. The Ki67 stain was positive in less than 10% of cells. The histopathological diagnosis was plexus papilloma with atypical features. However, due to difficulty in evaluation of the grade of this tumor, an international review was requested which confirmed the diagnosis of a typical choroid plexus papilloma (CPP) (Dr. Martin Hasselblat, international CPT registry [] also see acknowledgments-. Sanger sequencing of TP53 (NM_000546.6) identified in the CPP the missense variant c.844 C > T (p.Arg282Trp), previously reported as a pathogenic/likely pathogenic mutation (COSM10704; dbSNP variant rs28934574). The wild-type allele was absent, consistent with the loss of heterozygosity (Fig. ). Germline TP53 mutation analysis was performed. Sanger sequencing revealed the presence of the c.844C > T mutation in heterozygous status in the patient’s peripheral blood. Informed consent signed by parents was obtained before germline testing. Our findings confirmed the suspected Li–Fraumeni syndrome as the cancer predisposition syndrome underlying the patient’s malignancies (Fig. ). Genetic testing of the family disclosed that she shared with her healthy father the same TP53 mutation, while both, her mother and sister, had no deleterious variants.\nAfter the first neurosurgery, the administration of a course of ICE chemotherapy (Ifosfamide-carboplatin-etoposide) [] was given to facilitate a second look surgery, but also considering that would be useful for both the choroid plexus tumor and the likely concomitant Wilms tumor. After one ICE Course the MRI evaluation showed that the cerebral tumor was stable, whereas the renal tumor was slightly reduced and the pericapsular hematoma was completely resolved. Before the second neurosurgery a cerebral arteriography was performed without detecting any actively dependent vessels, therefore tumor embolization was not performed. In the second neurosurgery only partial resection could be accomplished because of hemodynamic instability due to hemorrhage. The histopathological analysis confirmed CPP with atypical features and prominent osseous and cartilaginous metaplasia. The residual tumor caused partial exclusion on the left lateral ventricle. An Ommaya-type reservoir with the catheter tip implanted into the excluded ventricle permitted withdrawal of CSF and resolved the symptoms of the segmental ventriculomegaly.\nAfter confirming the stability of the cerebral tumor, complete resection was deferred in order to focus on the renal tumor. A radical left nephrectomy showed a Stage II Wilms’ tumor without anaplasia, but nuclear unrest was patent; p53 IHC staining was very strong and Sanger sequencing of TP53 demonstrated the presence of the same homozygous c.844C > T mutation identified in the CPP tumor (Fig. ). Chromosomal analysis (CytoScan HD Array, ThermoFisher Scientific) of the Wilms’ tumor revealed a complex pattern of copy-number gains and losses affecting numerous chromosomes ( C). Chromosome 17 displayed two chromosomal abnormalities, a long contiguous region of absence of heterozygosity encompassing the entire short arm of chromosome 17 associated with an extra copy of the entire chromosome (trisomy). The short arm of chromosome 17 displayed thus three homozygous, uniparental copies. More than 70% of the viable tumor consisted of blastema. Chemotherapy was tailored to the blastemal-type Wilms tumor and the persistent CPP, with alternating cycles of VAD chemotherapy (Vincristine / Actinomycin / Doxorubicin) [] with ICE, for four courses. Although the role of adjuvant chemotherapy is controversial in CPP, the aim of the treatment was to facilitate the surgical resection []. At the end of chemotherapy the patient underwent a third intervention for the brain tumor and a complete resection was achieved with an uneventful postoperative course. The histology confirmed CPP.\nAt the time of this report, more than 2 years follow-up after diagnosis, the patient is in complete remission with no new tumors identified during the follow-up. So far, her father has regular follow-up examination and has not been diagnosed with any type of neoplasia. |
In early 2014, a 61-year-old woman experienced numbness and pain on the right side of her face, accompanied with impaired vision in the right eye. Magnetic resonance imaging (MRI) revealed a soft tissue mass measuring 5.0 × 4.3 × 6.1 cm spreading both sides of the sphenoid sinus, with extension to the ethmoid sinus, cranial base, base of the middle cranial fossa, and the adjacent right temporal lobe parenchyma (Fig. ). Incisional exploration and biopsy were performed under local anesthesia for an accurate diagnosis. Biopsy results indicated that the mass was a poorly differentiated adenocarcinoma (Fig. ).\nThe review of medical history found that the patient was diagnosed with a 35 mm intraductal carcinoma in the left breast in 2009 and treated with radical mastectomy and axillary node clearance. Eleven axillary lymph nodes were removed, and none of them was positive for breast carcinoma. The carcinoma was classified as histological grade 3 and staged as pT2N0M0 according to the Tumor, nodes and metastasis staing system. Further analysis revealed the cancer specimen was negative for estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER-2), indicating that the malignancy was triple-negative breast cancer. Following primary mastectomy, the patient underwent chemotherapy with the FAC regimen (fluorouracil, doxorubicin, and cyclophosphamide) for 4 cycles. The patient remained asymptomatic and was free of recurrence during routine follow-up care for 4 years.\nThe sphenoid sinus specimen was processed for immunohistochemical staining. The results showed the lesion was positive for CK7 and negative for CDX2, CK20, TTF–1, villin, ER, PR, and HER-2. The histology sections of the primary breast lesion of this patient were obtained from the hospital where the patient underwent mastectomy and compared with the sphenoid sinus sections. The specimen from the sphenoid sinus demonstrated similar morphological and immunophenotypic features to the primary breast cancer tissue. This evidence proved that the mass in the sphenoid sinus was metastasized from the primary breast carcinoma. Further examinations, including bone scan and computed tomography (CT) of the chest, abdomen, and pelvic confirmed the absence of other distant metastases.\nThe patient was treated with the docetaxel and cisplatin (DP) regimen (docetaxel 75 mg/m2 and cisplatin 100 mg/m2) for 4 cycles, followed by radiotherapy with concurrent weekly 40 mg/m2 cisplatin treatment. A total of 54 Gy intensity-modulated radiotherapy (IMRT) was administered to the metastatic sites. After the chemotherapy and radiotherapy, the pain was reduced, and MRI evaluation of the maxillofacial region indicated that the tumor size was stabilized. The patient subsequently received maintenance chemotherapy of a single drug docetaxel (75 mg/m2) for 10 cycles. The follow-up MRI examination did not find any radiological progression until October 2016, when the patient was diagnosed with vertebral and liver metastases. The total time to progression was 32 months.\nAll the procedures were performed after obtaining informed consent, and the patient provided a written informed consent for this case report. A retrospective patient case report which is not conducted with patients to evaluate new medical treatment does not require ethics committee or institutional review board approval according to our guideline. |
In August 2010, a 57-year-old Chinese male presented with epistaxis and decreased hearing for 1 month. No additional symptoms, such as a neck mass, nasal obstruction, headache, diplopia or other cranial nerve palsies, were noted. The patient had no history of previous or synchronous tumours or any family history of cancer. Nasopharyngoscopy revealed a large exophytic tumour that was covered by smooth mucosa, which grew from the right posterolateral nasopharyngeal wall in the right posterior naris. Magnetic resonance imaging (MRI) scans of the nasopharynx and neck using gadolinium enhancement demonstrated a 2.0 × 1.5 × 2.0 cm well enhanced mass over the right posterior nasopharynx with right retropharyngeal node enlargement. The tumour extended across the right parapharyngeal space and infiltrated into the medial pterygoid muscle. In addition, skull base erosion was detected with right alar lamina involvement (Fig. ). Cervical lymph node metastasis was not observed. Hematologic, hepatic and renal function tests revealed no abnormalities. The patients underwent chest and abdomen computed tomography (CT) as well as a bone scintigram, and no distant metastasis was found. A biopsy of the nasopharynx was performed.\nIn the biopsy specimen, normal salivary tissue was not present. The tumours were ill demarcated without encapsulation. Tumour cells were arranged in nests and nodules. Two morphologic patterns of the tumour cells were observed. Some small round cells exhibited dark nuclei and scant cytoplasm. Other large cells contained round to oval pale nuclei and eosinophilic to amphophilic cytoplasm. In the central region of the tumour cell nests, large cells displayed a solid growth pattern. Small dark cells were clustered at the periphery of the tumour cell nests and appeared palisaded. Prominent nucleoli and mitosis can be observed, and an average of three mitotic figures were observed per 10 high-power fields (original magnification × 400).\nIn the immunohistochemical analysis, the tumour cells were immunoreactive with P63, vimentin, and cytokeratin (CK7 and CK14) antibodies and focally immunoreactive with a calponin antibody. This case of BCAC was not positive for smooth muscle actin or CD117. The proliferative index as demonstrated by Ki-67 was approximately 10%. Based on the immunohistochemistry results and the pathological findings, which included tumour islands with solid proliferation, basaloid-like cells containing large pale and small dark cells, an infiltrative margin, cellular and nuclear pleomorphism, and prominent mitosis, the patient was diagnosed with a solid-type minor salivary gland BCAC (Fig. ).\nBased on the 2002 American Joint Committee on Cancer (AJCC) Tumor, Node, Metastasis (TNM) staging system [], the tumour was classified as stage III (T3N0M0).\nIn our case, the patient received intensity-modulated radiation therapy (IMRT) with 6 MV X-rays. The delineation of the gross tumour volume (GTV) was based on the primary tumour volume determined from the physical and imaging examinations. The clinical target volume (CTV) was defined as the whole nasopharyngeal cavity, the clivus, the skull base, the pterygoid plates, the parapharyngeal space, the sphenoid sinus, the posterior one-third of the nasal cavity, the maxillary sinus, and the drainage of the upper neck (levels II, III, and Va. A total dose of 70.4 Gy/32 F/6.2 W was administered based on the planning target volume (PTVg) (GTV with 0.5 cm margin). The PTV60 was defined as 60 Gy/30 F (CTV with 0.5 cm margin) (Fig. ). After radiotherapy, MRI and nasopharyngoscopy revealed complete disappearance of the tumour (Fig. ). The patient was followed up every 3 months for the first 2 years, every 6 months for another 3 years, and then every 12 months. A follow-up at 72 months did not detect any evidence of disease recurrence. The patient developed moderate mucositis as an acute adverse event. However, he did not exhibit any grade 3/4 late adverse events, such as xerostomia, dysgeusia, or hearing impairment. |
A 43-year-old man with a history of chronic alcoholism presented with abdominal distension. The previous day, the patient had presented to a local hospital with anal bleeding and abdominal pain after an incidental insertion of barbecue skewer per anus in the drunken state; subsequently, he had undergone sigmoid loop colostomy for rectal perforation. However, after the operation, the patient had become hemodynamically unstable. At presentation, his systolic blood pressure was 90 mmHg and the pulse rate was 135 beats/min. Although there was no gross rectal bleeding, the digital rectal examination revealed a penny-sized anterior rectal wall defect 6 cm from the anal verge (AV). Computed tomography (CT) revealed a hematoma (12 × 10 × 15 cm) with active bleeding in the pelvic cavity and a pseudoaneurysm in the anterior wall of the rectum (). Since the patient was hemodynamically unstable, an emergency operation was performed. During the operation, a massive subperitoneal hematoma in the rectovesical pouch and large amount of blood in the peritoneal cavity were found. After evacuation of the hematoma and blood, oozing continued in the rectovesical pouch (). Thus, compression with gauze was performed for 30 min until the oozing stopped. The Hartmann procedure was performed with the suspected bleeding focus included, but the perforation site was not included.\nAlthough the postoperative course was uneventful and there was no evidence of recurrent bleeding on the follow-up CT on the 7th postoperative day (POD), a focal enhancing lesion in the anterior wall of the rectum indicating a residual pseudoaneurysm was noted (). On the 11th day POD, his hemoglobin decreased from 11.6 g/dL to 7.9 g/dL, and the follow-up CT revealed recurrent hematoma (6.0 × 4.2 cm) in the pelvic cavity and the residual pseudoaneurysm (). Following the diagnosis of recurrent bleeding from the residual pseudoaneurysm, an angiography was performed. However, the angiography failed to localize the pseudoaneurysm, and definite signs of extravasation could not be ascertained. Thus, prophylactic gelfoam embolization at the anterior branch of both the internal iliac arteries was performed (). The subsequent hospital course was uneventful, and the patient was discharged on the 25th POD. After 3 months, the previous rectal lesion (AV: 6 cm) healed, and colostomy reversal was performed without morbidity. |
A previously healthy 39-year-old woman was referred to our hospital because of a cystic lesion in the liver demonstrated by abdominal ultrasonography (US). Laboratory studies, including liver function tests, and tumor markers were also within the normal limits. Serological markers for hepatitis B or C viral infection were undetectable. Abdominal US revealed a well demarcated, heterogeneously low-echoic mass 170 mm in diameter in right lobe of the liver. Abdominal computed tomography (CT) during hepatic arteriography (CTHA) revealed early ring enhancement in the peripheral area in the arterial phase and slight internal heterogeneous enhancement in the delayed phase (Figures and ). Magnetic resonance imaging (MRI) showed that the tumor had low signal intensity on T1-weighted images and some foci of high signal intensity on T2-weighted images. Gadolinium ethoxybenzyl (Gd-EOB) MRI revealed no uptake in the corresponding area (Figures , , and ). Abdominal angiography demonstrated a large avascular region in the liver corresponding to the tumor, although no typical features of cavernous hemangioma were evident (). 18-Fluorodeoxyglucose positron emission tomography (FDG-PET) revealed no abnormal FDG uptake. With these radiological findings, malignant liver tumor could not be excluded, such as biliary cystadenocarcinoma, cholangiocarcinoma, mesenchymal tumors, and hepatocellular carcinoma associated with cystic formation.\nThe patient underwent posterior sectionectomy. Intraoperative examination revealed a relatively soft dark red tumor (); the resected specimen weighed 1.1 kg and measured as 170×100×80 mm. The cut surface of the tumor revealed a white, solid, and cystic mass that was elastic, soft, and homogeneous with a yellowish area considered to be myxoid degeneration (). Histological examination showed that the tumor mostly consisted of sclerotic area and cavernous hemangioma area is partly observed (). Sclerotic area presents diffuse fibrosis () and the typical histology of cavernous hemangioma was confirmed in some parts. In addition, marked increase and dilation of medium sized veins with cavernous form were frequently noted in the surrounding areas of tumor (). The increased and dilated veins show positivity of CD31 immunostaining being a marker of endothelium (). The pathologic features were consistent with sclerosing hemangioma. The postoperative course was uneventful, and the patient was discharged on postoperative day 10. |
A 41-year-old male was admitted to the Emergency Department complaining for acute sharp abdominal pain followed by abdominal distention, nausea, vomiting and bloody stools. The patient was a heavy smoker (70 cig/24 h) and reported mild abdominal distention during the last month and an episode of anal bleeding 4 years ago, which had been attributed to hemorrhoids. His mother died after surgical operation for multiple polyposis coli.\nThe physical examination revealed abdominal distention, hypoactive bowel sounds, and a large palpable intra-abdominal mass with peritoneal signs. A palpable osteomatosis of the right mandible, multiple sebaceous cysts and subcutaneous fibromas of the trunk and head were observed. The absence of intestinal sounds, the distention and the abdominal contraction suggested acute abdomen. The blood analysis suggested leukocytosis (WBC 18110/μL out of which 94% were neutrophils) and anemia (Hct 29.3% and Hb 7.7 g/dl).\nAbdominal ultrasound revealed a large mass with necrotic lesions. Triplex study of the mass indicated decreased internal circulation with measurable velocity. An abdominal CT scan that performed after oral gastrographin administration and IV contrast medium infusion, revealed a large intra-abdominal neoplastic mass consisting of tissues of variable density. The mass was extended from the pancreas to the pelvic entrance (figure ). The tumor displaced the adjacent visceral structures. Other findings include a small diaphragmatic hernia, and a hypodense enlargement of the right adrenal due to adrenal adenoma. Sigmoidoscopy up to 20 cm revealed multiple polyps.\nThe patient was surgically treated. After entering the abdominal cavity a large solid neoplasmatic mass which invaded parts of the small and large intestine was recognized. The abdominal tumor was resected, along with the involved parts of the small intestine and the right colon (Figure ). The excised right colon revealed numerous small and large polyps, suggesting a background of familial polyposis. The adrenal adenoma was also resected; cholecystectomy was carried out due to co-existing cholelithiasis in order to prevent biliary obstruction.\nPostoperative ophthalmologic examination of the fundus, revealed the characteristic black spots of congenital hypertrophy of the retinal pigment epithelium typical of Gardner syndrome. Full length colonoscopy was scheduled after patient's discharge. Unfortunately the patient died three months later from acute myocardial infarction. We failed to identify clinically any only obvious risk factors for the subsequent AMI except smoking.\nThe histological examination of the specimen revealed desmoid tumor. Further cytogenetic studies along with APC mutation analysis confirmed the diagnosis. Mutation was identified in exon 9 and codon 1444.\nExtra-abdominal manifestations of Gardner's syndrome along with a palpable abdominal mass would raise suspicion for the presence of a desmoid tumor in the majority of cases. Computed tomography would help to establish the diagnosis [-]. The patient was discharged the 12th postoperative day. |
A 39-year old woman, with a medical history of 20 pack-years of smoking, was diagnosed lung adenocarcinoma with liver metastasis in September 2009. Molecular analysis of the tumor revealed no EGFR mutation. She was treated with cycles of permetrexed (500 mg/m2) and cisplatinum (75 mg/m2) every 21 days from September 2009 to January 2010, with a stable disease on CT scan evaluation after 6 cycles of chemotherapy.\nIn January 2010, she had a persistent headache associated with photophobia and a progressive decrease of her performance status. Radiological explorations included a CT and a MRI of the brain and were considered normal. A cerebrospinal fluid (CSF) exploration was then performed, revealing the presence of carcinomatous cells, compatible with an adecarcinoma of the lung. The CSF protein level was slightly increased (0.47 g/L), whereas CSF glucose level was normal. Intrathecal DepoCyt® (50 mg) was delivered the 17th of February 2010, followed by marked aggravation of clinical symptoms and worsened performance status, despite oral prednisone intake at 1 mg/kg.\nThe patient was then treated with intrathecal injections of methotrexate (15 mg, day 1-5) and prednisolone 30 mg (day 1) with oral folinic acid rescue (25 mg 12 h after methotrexate, day 1-5) []. A cycle was performed every 2 weeks with repeated lumbar punctures. Four cycles of high dose methotrexate were administered between March and April. A clinical improvement was noticed after the first cycle of chemotherapy, with decrease in headaches, improvement of performance status, allowing the diminution of prednisone intake. Clearance of carcinomatous cells was observed on CSF exploration after the second cycle of chemotherapy and confirmed until the end of intrathecal injections. Treatment was well tolerated and no clinical or biological toxicity was noticed. Interruption of intrathecal treatment was decided with regards to clinical and cytological response after four intrathecal treatment injections.\nAt the end of intrathecal treatment, CT scan evaluation of lung and liver disease showed stability of systemic disease, and systemic maintenance chemotherapy by permetrexed (500 mg/m2 every 21 days) was then performed. Lung disease progression was noted in September 2010, associated with reappraisal of CM symptoms, and rapid decrease of performance status, leading to chemotherapy interruption.\nDeath occurred in October 2010, 13 months after the diagnosis of the cancer, and 35 weeks after the cytological diagnosis of CM. |
A 17-year-old male patient presented to ENT clinic with history of facial heaviness and chronic headache located in the left frontal area. Associated with bilateral nasal obstruction, anosmia and recurrent epistaxis. His medical history includes diabetes mellitus type 2 on insulin regimen. His surgical history includes FESS done one year back. Ophthalmic examination showed displaced left eye downward and outward. ENT examination showed bilateral nasal pale polyps grade 3-4 with white discharge. Otherwise examination was unremarkable.\nThe patient was evaluated by CT scan of the brain and paranasal sinuses which revealed a marked enlargement of the frontal sinuses, more pronounced on the left side with associated dehiscence of the posterior wall of the sinus and intracranial extension of soft tissues within epidural space measuring 5.3 × 4.1 cm on axial image ().\nMRI of the brain and sinuses () showed significant expansion of both frontal sinuses by the mucopyoceles with largest on the left measuring 4.7 × 6.5 × 6.7 cm with avid heterogeneous enhancement. The mucopyoceles were displacing and compressing the underlying dura with significant mass effect ().\nUnder general anesthesia, image guided endoscopic sinus surgery was undertaken. Examination revealed extensive nasal polyposis grade 4 that was removed by microdebrider and frank pus was drained, removal of the obstructing polyps from the ethmoidal cavities was done, frontal recess was identified full of obstructing infected polyps that was removed and drained (). Draf type 2 b procedure was performed bilaterally to adequately drain and ventilate the frontal sinuses (), that facilitate identifying the mucopyoceles cavities which were full of frank mucopus that was drained and the cavities were irrigated with antibiotic soaked irrigations (). The cavities of both mucopyoceles were completely evacuated and checked by the help of navigation ().\n6 months post operative follow up CT scan of the sinuses showed complete resolution and normal aeration of the sinuses (, ) |
A 42-year-old man presented to our pancreas multidisciplinary clinic after a computed tomography (CT) scan (), prompted by a 2-month history of generalized bloating and epigastric discomfort, that demonstrated a 11.2 × 9.6 cm heterogeneous solid appearing mass in the tail of the pancreas. The irregular mass had several small peripheral calcifications and lobulated contours abutting the spleen, stomach, and splenic flexure of colon without any direct invasion. He underwent a distal pancreatectomy and splenectomy with splenic artery lymph node dissection. Intraoperatively the large soft lobular cystic mass at the pancreatic tail was locally contained without any obvious invasion of surrounding structures or gross metastasis. Histopathological assessment of the mass established it as a pT3pN0pMx SPNP (CD56pos nuclear β-cateninpos chromograninneg and synaptophysinneg). Margins were negative without any lymphovascular or perineural invasion. The patient was discharged home after an uneventful period of convalescence in the hospital.\nFour years later, he was referred back to our clinic after discovery of a biopsy-proven recurrence in the splenic fossa (). The bulk of the tumor was densely adherent to the splenic flexure and gastric fundus and was resected with wedge gastrectomy and partial colectomy. A 4 cm nodule of tumor adherent to the diaphragm as well as omentum was removed by dividing the omentum and stripping the superficial layer of diaphragm. The tumor was soft, extremely friable, and fractured with minimal manipulation. It remained densely adherent to the left diaphragm, left kidney, and left adrenal gland. Eventually, we were able to dissect down through the Gerota's fat and strip the anterior capsule of the kidney clean to dissect the tumor off the kidney and the adrenal gland. The other end of the mass remained adherent to the diaphragm and was removed along with a portion of the diaphragm.\nFinal pathology report confirmed the presence of recurrent metastatic SPNP in omentum, diaphragm, accessory spleen tissue, and the gastric fundus. The patient recovered well from his surgery and was discharged home. He underwent CT surveillance at 3-month intervals per his medical oncologist and his first three scans showed stable postoperative changes without any evidence of local recurrence or metastatic spread. However, his next scan showed enlarged retroperitoneal paraaortic nodes that were found to be fluorodeoxyglucose (FDG) avid. He was started on capecitabine with stable disease on recent repeat imaging in April 2018. |
A 40-year-old Hispanic man with a past medical history of human immunodeficiency virus (HIV) was brought to the emergency department complaining of right upper extremity (RUE) weakness and numbness for four days with associated bitemporal headache and generalized fatigue. The patient reported first time use of intranasal cocaine and heroin, after which he lost consciousness and woke up approximately four hours later with new onset RUE and headache. His cluster of differentiation 4 (CD-4) count was reported above 500 cells/mm3 and viral load (VL) was undetectable. The patient did not have any known CNS complications in the past.\nOn physical examination, his blood pressure was 151/97 mm Hg and pulse was 82 and regular. He was alert and cooperative. His cranial nerves were intact. His motor exam, however, was abnormal in the RUE with 3/5 arm strength and wrist drop; the strength and tone of the other extremities were normal throughout. Deep tendon reflexes were normal bilaterally, but his gait could not be evaluated. His sensory function decreased to pin sensation at the RUE and normal sensation was noted in the rest of the extremities and face. Laboratory testing was normal except for an elevated creatinine of 6.9 mg/dl, creatine phosphokinase (CPK) of 7855 IU/l, alanine transaminase (ALT) of 139 IU/l, and aspartate transaminase (AST) of 109 IU/l. Urine toxicology was positive for metabolites of cocaine and heroin. Magnetic resonance imaging (MRI) of the brain was done and it revealed two areas of increased T2/FLAIR signal within the medial aspect of both basal ganglia, measuring 16 mm in the right and 12 mm on the left involving each globus pallidus and the genu of the internal capsule, as can be seen in Figures -. His chest radiography was normal, computerized tomography (CT) of the brain, as can be seen in Figure , and cervical spine were normal. His electrocardiogram was normal.\nIn the subsequent days, his kidney function and rhabdomyolysis improved. The patient remained fully awake, alert and oriented, but the weakness of his RUE persisted. The patient decided to leave against medical advice despite full explanation of the risk of leaving.\nThe patient was contacted over the phone and he informed us that he followed up with his primary care physician and reported improvement of the weakness. He received physical therapy and was independent in all activities of daily living and functional mobility. His only limitation was a moderate decrease in fine motor coordination of the RUE. |
A 57-year-old man with a past history of hypertension, diabetes mellitus type 2, hyperlipidemia, and crack cocaine use was admitted to a community hospital for flu like symptoms of one-week duration and ongoing paroxysmal episodes of left hand numbness and weakness occurring over several months. In the emergency department patient was febrile to 38.9°C. He had a slight peripheral white count and CSF demonstrated a lymphocytic pleocytosis (190 white blood cells (WBC), 81% lymphocytes), with normal protein and glucose. He was started on acyclovir, ceftriaxone, ampicillin, vancomycin, and 3 days of methylprednisolone. Over the course of eight days the developed worsening left arm weakness, dysarthria, confusion, agitation, and episodic right eye gaze deviation. Upon arrival to the intensive care unit his examination was notable for fever, tachycardia and not opening his eyes to voice or noxious stimuli. He exhibited roving spontaneous eye movements, with present oculo-cephalic, corneal, and gag reflexes. He had normal tone in all limbs and left-sided hemiplegia. A repeat lumbar puncture demonstrated 85 red blood cells (RBC), 47 WBC (94% lymphocytes), a protein of 61, and glucose of 71 and opening pressure of 250 mm H2O. Magnetic resonance imaging with contrast revealed several T2 signal abnormalities in the deep cerebellar white matter, right posterior thalamus, and right posterior frontal gyri (). No corresponding regions with an increased apparent diffusion coefficient (ADC) were identified. The lesions did not enhance with gadolinium and gradient phase echo showed no evidence of blood products. Cerebral angiography demonstrated no obvious abnormalities. Continuous EEG showed no seizures. He was continued on acyclovir, ceftriaxone, vancomycin, ampicillin, as well as steroids. CSF viral, bacterial, and fungal cultures were normal, as was a paraneoplastic panel. The patient's exam was unchanged for the first three days, he exhibited autonomic instability requiring either norepinephrine or nicardipine drips and was cooled to achieve normothermia. The ANA test was negative and the patient did not harbor ANCA antibodies, mycoplasma IgM, or cryoglobulins. The patient underwent a stereotactic right parietal craniotomy for biopsy of a cortical region with T2 signal abnormalities, as well as surrounding dura mater. The biopsy showed evidence of ABRA ().\nHematoxylin and eosin stained sections showed an intramural and perivascular inflammatory infiltrate composed predominantly of mature appearing T cells. Many of the small to medium caliber vessels showed markedly thickened, rigid appearing walls with deposition of a glassy, hypereosinophilic material that stained strongly with an immunostain for beta-amyloid. Occasional vessels showed formation of concentric double rings of the hypereosinophilic material within the vessel wall. Larger vessels within the leptomeninges also showed beta amyloid deposition. A trichrome stain also showed a mild to moderate degree of collagen deposition in these same vessels. No granulomatous inflammation was identified. Staining for CD20 showed only rare B cells in the inflammatory infiltrate. The cerebral cortex appeared hypercellular secondary to the presence of a mixed inflammatory infiltrate comprising macrophages/microglia (highlighted by staining for CD68) and mature appearing CD3-positive T cells as well as a reactive astrogliosis (highlighted by staining for GFAP). Additionally, several microscopic subacute infarctions were identified each with a robust histiocytic response. Beta amyloid monoclonal antibody immunohistochemistry revealed both amyloid angiopathy and diffuse-type plaques within the cortical neuropil. Immunostaining for tau protein was negative for neurofibrillary tangles except for rare neurites within an immature plaque.\nSix days after initiating high-dose methylprednisolone the patient's exam improved with evidence of visual tracking and following simple commands using his right hand. He was subsequently started on a course of cyclophosphamide 0.75 mg/m2 body surface area (BSA) and his examination gradually improved. At discharge to an acute rehabilitation facility eight days later the patient was mildly lethargic, with a residual left-sided weakness and improving dysarthria. An MRI at discharge demonstrated reduced FLAIR hyperintense signal, as well as a left cerebellar microhemorrhage. The patient's serum was sent for ApoE genotyping, and he was found to be a E2/E3 heterozygote. |
An 83-year-old male with a history of hypertension, three-vessel coronary artery bypass, and chronic obstructive pulmonary disease underwent a cystoscopy for hematuria. Rapid sequence induction and intubation were uneventful and he was placed on volume control ventilation. Shortly after the urologists began the procedure, his peak inspiratory pressure (PIP) rose, oxygen saturation dropped, and he became hypotensive and difficult to ventilate. He was placed on 100% oxygen and given albuterol and fluids along with one gram of calcium and 40 mcg of epinephrine in an initial resuscitation attempt. The urologists stopped working due to his continuing instability. His PIP rose further to 50–55 cm H2O with plateau pressures above 20 cm H2O with a tidal volume of only 300 mL on pressure control ventilation.\nHe was found to have a grossly rigid and distended abdomen. A cystogram showed extravesicular contrast, and an abdominal ultrasound revealed a fluid collection separating the liver from the abdominal wall and the right kidney. A drain was placed into the right upper quadrant with 1500 mL of clear fluid draining out immediately. His PIP and oxygenation improved, abdomen became less tense, and he was then transferred to the intensive care unit.\nWithin an hour he developed refractory hypotension, a firm, distended abdomen and became anuric. His PIP again rose above 50 cm H2O, and he developed ST segment changes on EKG monitoring. When there was no benefit with neuromuscular relaxation, he was taken back to the operating room for an emergent exploratory laparotomy.\nAt this point the PIP was above 60 cm H2O, and he remained markedly hypotensive despite vasopressor support. A 1.5 L intra-abdominal hematoma was evacuated along with more than 4 L of sanguinous fluid. His blood pressure immediately rose, and pressors were titrated off. A 0.5 cm bladder tear, sigmoid mesenteric tear, and arterial damage were all repaired, and a suprapubic drain was placed. The patient was switched back to volume control ventilation and now had a PIP of 28 cm H2O. He recovered well in the intensive care unit and was extubated 4 days later. |
The patient was a 64-year-old woman with seven children brought to the hospital with severe vomiting and a history of solid dysphagia; she had the symptoms for three months and was referred to different physicians, left without definite diagnosis before admission to our center.. Patient’s past medical history was unremarkable. Post-contrast computed tomography (CT) of the neck showed two lesions (kissing tumors) in the upper esophagus, causing the tracheal shift to the right side with no lymph node enlargement (Fig. ). Physical examination revealed no abnormalities, and the results of laboratory examinations were within the normal range. CT-guided fine-needle aspiration biopsy evaluation of the mass showed a few pleomorphic spindle malignant cells among inflammatory cells in a bloody background. Additional endoscopy of the esophagus, stomach, and duodenum was performed for the patient, which showed a large tumor in the cricopharyngeus causing stricture, while the stomach and duodenum were normal. (Fig. ).\nThe patient was scheduled for exploratory laparotomy with the exploration of cervical organs, resection of the pharynx, thyroid (partial), and esophagus and gastric pull up along with the insertion of a tracheostomy and bilateral chest tube, and cervical penrose.\nThe patient was laid in a supine position. After preparation and sterilization, the abdomen was opened by a high midline incision. The surgeon inserted his finger into the mediastinum to assess the presence of any tumors. Stomach was mobilized by harmonic ligasure, lesser sac was opened, short gastric and left gastric arteries were ligated, and gastric pedicle was made on the right gastroepiploic arteries and epigastric area. Then, the esophagus was dissected bluntly by the finger in the mediastinum through the hiatus's opening and continued upward. Adhesion to the carina was found and released meticulously. Next, the collar incision was made on the neck. Then, subtotal thyroidectomy was done, and the specimen was sent for pathologic evaluation. Trocar was introduced in the sheath over the spine, and the esophagus was gently dissected and pulled up. The esophagus' blunt dissection was also carried out from the above until two hands could reach each other via the upper and lower incisions. After the esophagus' full release, resection of pharynx, larynx, and esophagus was done, and specimens of the proximal esophagus were sent for further pathological evaluation. Then, anastomosis of the mouth floor to the stomach was performed with polydioxanone suture 3/0, and the neck wound was irrigated and closed after insertion of a Penrose drain. The posterior part of the trachea was then fixed to the skin with Vicryl 3/0, and tracheostomy tube size 7.5 was inserted. The abdomen was irrigated, and the fascia was closed with a nylon loop one and irrigated. The skin was closed by nylon 3/0. Bilateral chest tubes No. 24 were inserted into the 5th intercostal space with a depth of 10 cm and fixed with silk 0 dressing. The surgery lasted for five hours and thirty minutes, and the patient received two packed cells and 6500 cc normal saline and had 4000 cc urination and 450 cc bleeding.\nThe gross pathological evaluation showed two separate grey cream masses with a smooth glistening surface at the cricopharyngeal level that made a stricture, as shown in Fig. . Microscopic evaluation showed malignant pleomorphic spindle cell neoplasm with high mitotic rate and many atypical mitoses in the larger mass (measuring 52 × 45 × 30) and invasive squamous cell nests proliferation in the smaller mass (measuring 15 × 6 × 6 mm). (Fig. ) Immunohistochemistry (IHC) evaluation of the larger mass sections revealed negative results for P63, desmin, CD34, c-kit, DOG1, and cytokeratin (CK). It was diffusely positive for smooth muscle actin (SMA), S100, and also the high expression of proliferation index Ki67 to up to 15% was suggestive of malignant smooth muscle tumor. (Fig. ) IHC evaluation of the smaller mass shows diffuse CK, P63 positivity (Fig. ), and negative immunostaining for S100 and SMA was observed, which indicates the diagnosis of SCC. Tumors had no lymphovascular invasion, and the resection was curative with negative horizontal and vertical margins. Histopathological evaluation of the thyroid specimen shows nodular hyperplasia. Seven regional lymph nodes were free of metastasis.\nThe patient was discharged after ten days of hospital admission and was referred to the radio-oncologist. The patient underwent radiotherapy and was stable at six months' follow-up with no recurrence. |
A 70-year-old man (weight 70 kg, body mass index 25.7 kg/m2) with underlying hypertension and dyslipidemia underwent an elective open hernioplasty for right inguinal hernia under ambulatory surgery. He had normal airway features: good mouth opening, Mallampati score of 1, thyromental distance > 6 cm and normal tongue protrusion. General anesthesia was induced with intravenous propofol 200 mg plus fentanyl 100 μg and a size 4 LMA ProtectorTM Airway was placed smoothly in a single attempt by a senior resident. The cuff was inflated with 25 ml of air and the black line indicator on the cuff pilot valve remained within the green zone throughout the surgery. However, we did not check the intra-cuff pressure using manometry. The oropharyngeal leak pressure was 25 cmH2O. The sternal notch test and bubble test were performed after insertion to confirm the placement of the LMA protector []. Anesthesia was maintained with a mixture of sevoflurane and oxygen/air. The patient’s breathing was supported with a pressure support of 8 cmH2O, which generated a tidal volume of 400–450 ml and the maximum minute ventilation attained was 12 L/min with peak pressures of 8–10 cmH2O. He was placed in a supine position with standard American Society of Anesthesiologists monitoring for the surgery which lasted for 180 minutes. The surgery was uneventful, and the patient’s vital signs were stable throughout. Postoperatively, the LMA was removed smoothly when he was awake. Moreover, blood stains or minimal secretions were not observed on the device.\nAt the post anesthesia care unit, the patient complained of difficulty in chewing food and a weird tongue movement. He had no voice changes or altered taste sensation. On examination, the patient’s tongue was seen to be deviated to the left during active protrusion (). All sensations of the tongue were intact and there were no tongue fasciculations or wasting. The neurological examination revealed no lateralizing signs or limb weakness. The gag and cough reflexes as well as other cranial nerves were normal. The patient was referred to the ENT surgeon the same day. The nasoendoscopy examination was unremarkable. The working diagnosis was that of an isolated left hypoglossal nerve palsy or neuropraxia. He was allowed to go home the same day with reassurance, oral prednisolone for one week, and instructed for follow up at the ENT outpatient clinic. Neuroimaging was not required. He achieved complete recovery 3 months after the injury (, ) and was subsequently discharged from the follow-up clinic. |
A 28-year-old woman initially presented with blurry vision that developed over the span of approximately one month. The blurry vision was initially most prevalent on horizontal gaze but progressed to include vertical gaze. It resolved with closure of one eye. She reported a history of gradually worsening headache over the past several years. Her headaches both worsened in intensity and increased in frequency, until it was quite debilitating and occurred daily. She described the headache as an intense pressure in both the front and back of her head. She also noted a “whooshing” sound in her right ear. She denied any nausea or vomiting and had not had any syncope, numbness, weakness, facial droop or slurred speech. Furthermore, she had no history of bladder or bowel dysfunction.\nHer medical history was pertinent only for obesity with a body mass index (BMI) of 39. On physical exam she was noted to have papilledema. Her neurological exam was unrevealing with the exception of a subtle sixth cranial palsy.\nA magnetic resonance image (MRI) was obtained which showed a T1 hypointense and T2 hyperintense cystic lesion arising from the pineal gland measuring 2.0 x 1.1 cm in the sagittal plane with mild mass effect on the tectum and partial effacement of the cerebral aqueduct (Figures , ). The lesion demonstrated a thin rind of contrast enhancement and had thin enhancing internal septations. The lateral ventricles were mildly enlarged. There was no restricted diffusion and no loss of gray white differentiation. Cine flow study noted cerebral spinal fluid (CSF) flow through the cerebral aqueduct. Based on the radiographic images, the most likely diagnosis was an atypical pineal cyst.\nGiven the rapidity of the vision changes, the decision was made to pursue surgical intervention. An endoscopic third ventriculostomy (ETV) with pineal cyst fenestration was performed without complication. A computed tomography (CT) scan obtained post-operatively noted questionable decompression of the lateral ventricles but the patient reported no improvement in symptoms (Figure ). Ophthalmologic evaluation noted worsened papilledema. At this time the patient underwent a lumbar puncture, which noted an opening pressure of 32 cm H2O. Subsequent catheter venography noted severe stenosis of the right transverse sinus associated with a 9 mm Hg trans-stenosis gradient (Figure ). Placement of a venous sinus stent obliterated the pressure gradient (Figure ).\nAt six-month follow-up, her blurred vision, headaches and papilledema had all resolved. She reported complete resolution of her symptoms and plans were made for continued annual follow-up to monitor symptoms and ensure patency of the stent. |
We describe the case of a 34-year-old gravida II para l woman, with a gestational age of 26 + 3 weeks at admission, who had a relatively healthy 4-year-old child with her 40-year-old husband of non-consanguineous marriage. She had been on injectable contraception for 2 years and had regular menses for 6 months before the pregnancy. She had antenatal care at a local health center and was vaccinated with tetanus toxoid once and supplemented with iron for 3 months. She was screened for retroviral infection, hepatitis, and syphilis and it was documented nonreactive. She had no anatomic scan at early gestation. She came to Felege Hiwot Referral Hospital with the chief complaint of severe and persistent headache of a day’s duration which was occipital in location associated with blurred vision and generalized body swelling of 1 week’s duration. She had no other danger signs in pregnancy. Her past gynecologic history, medical history, and surgical history were uneventful. She is Amhara by ethnicity. She had no known family history of hereditary or chromosomal disorders.\nHer blood pressure at admission was 180/120 mmHg and pulse rate was 84 beats per minute; her respiratory rate was 22 breaths per minute and she was afebrile. She had pink conjunctiva and non icteric sclera, 24 weeks-sized gravid uterus, no abdominal tenderness, no organomegaly, no sign of fluid collection in her abdomen, and the fetal heart beat was positive. She had no vaginal bleeding or discharge. She had pedal and pretibial edema. She was conscious and oriented to person, place, and time. Her deep tendon reflex was +2 and her motor and sensory examinations showed no motor or sensory problems. Other parts of systemic examinations were normal.\nHer hypertension was controlled with intravenously administered hydralazine 5 mg two doses at our emergency department. In her complete blood count her white blood cells were 7300 cells/micL, hemoglobin of 13.4 g/dl, and platelet count was 169,000 cells/micL. Urine protein dipstick was +2, and liver and renal function tests were done: serum glutamic pyruvic transaminase (SGPT) 89 IU/L (elevated), serum glutamic oxaloacetic transaminase (SGOT) 102 IU/L (elevated), alkaline phosphatase (ALP) 229 IU/L, and lactate dehydrogenase (LDH) 288 IU/L. Total bilirubin was 0.24 mg/dl, albumin was 3.49 g/dl, blood urea and nitrogen was 12 mg/dl, serum creatinine was 0.69 mg/dl, and oral glucose tolerance test was in the normal range. Obstetric ultrasound showed a singleton, alive, intrauterine pregnancy with average gestational age of 26 weeks, there was a single large ventricle with partially formed midline structure (see Fig. ), amniotic fluid index was 13.4 cm, placenta was located anteriorly at the body of the uterus, and the presentation was breech; the fetus had normal four chambers of heart with normal outflow tract.\nAfter blood pressure was controlled (it took 2 hours), she was admitted with the diagnosis of late second trimester pregnancy and preeclampsia with severity feature plus semilobar HPE. Seizure prophylaxis for preeclampsia was given (magnesium sulfate according to World Health Organization guideline), methyldopa 500 mg orally every 8 hours was added, and she was counselled about options of management; the high incidence of associated anomalies, severe morbidities of survivors, and poor prognosis were discussed. Termination was decided and done with misoprostol 100 microgram every 3 hours at the third dose with outcome of 1.1 kg male, alive neonate. On examination of the neonate, there was cebocephaly, hypotelorism, single patent nostril which enabled nasogastric tube 6F, micropenis (8 mm), and unilateral right hand polydactyly with agenesis of middle phalanges of the fifth finger. There was rigidity involving all extremities which resisted extension and flexion (see Figs. , and ).\nAfter basic neonatal care was given (cord tied, airway cleaned, and newborn dried), he was transferred to our neonatal intensive care unit (NICU) but he died 20 minutes after admission to NICU. Immediate cause of death was not known. Following his death, further investigations were not possible for cultural reasons. At third postpartum day, maternal blood pressure was 130/90 mmHg, pulse rate was 78 beats per minute, and respiratory rate was 20 breaths per minute. Her complete blood count showed white blood cells of 12,000 cells/micL, hemoglobin was 11 g/dl, and platelet count was 122,000 cells/micL. Liver function tests showed SGPT of 35 IU/L, SGOT of 12 IU/L, ALP of 359 IU/L, and LDH of 254 IU/L; total bilirubin was 0.56 mg/dl, blood urea and nitrogen was 22 mg/dl, and serum creatinine was 0.8 mg/dl. After she was counselled to have preconception care and prenatal screening in next pregnancy, she was sent home relatively healthy. She was well at postpartum visits and methyldopa was discontinued at seventh postpartum day. |
A 25-year-old female, gravida 4, para 1, with a history of two previous first trimester abortions and one living male child, came to our services for routine antenatal care; at that time, she had been married to one of her second-degree cousins for 6 years. She was advised to undergo a first trimester dating scan followed by an anomaly scan in the second trimester. The second trimester scan was performed at 19 weeks (according to her last menstrual period) and revealed a single live intrauterine fetus with unstable lie and mild polyhydramnios (amniotic fluid index, 27 cm). The fetal parameters of biparietal diameter (47 mm corresponding to 19.9 weeks), head circumference (170 mm corresponding to 19 weeks 4 days), and abdominal circumference (150 mm corresponding to 19 weeks) corresponded to a gestational age of 19 weeks 4 days. Bilateral femora were short (10.1 mm and 10.2 mm, corresponding to a gestational age of 12-13 weeks). The humeri on both sides were short as well (10 mm and 9.9 mm, respectively, corresponding to a gestational age of 12 weeks). The femora and the humeri measured below the fifth percentile. The tibia, fibula, ulna, and radius could not be measured on either side because they were sonolucent. The demarcation between the forearm and arm and the leg and thigh () was difficult to identify. There was no evidence of fracture or callus formation. The cranium showed no acoustic shadowing () and was deformable upon the application of pressure by using the transducer. The vertebral bodies revealed decreased mineralization (). The fetal thorax was extremely narrow with a ratio of the thoracic diameter to the abdominal diameter of 0.7 (). However, the trunk length was normal (3.5 cm). Furthermore, we observed bone spurs in the lower limbs (). No abnormal skull shape, neural tube defects, or cardiac defects were noted. The fundic bubble, both kidneys, and urinary bladder were unremarkable. The three-vessel umbilical cord was normal, and the placenta exhibited grade I maturity.\nDepending on the abovementioned findings, a diagnosis of HC was made. The serum alkaline phosphatase levels and DNA analysis for the identification of the TSALP gene were not performed for financial reasons. The woman was counseled about the natural course of the disease and its pattern of inheritance, and consent was taken for the termination of pregnancy. A live male baby, weighing 500 g, was delivered. Immediate neonatal resuscitation was instituted, but the baby succumbed to death in a couple of minutes.\nGross findings () included soft and pliable skull, narrow thorax, and micromelia of the bilateral upper and lower limbs. A slight overlap of the digits of both hands was noted. However, the feet appeared normal. Knee and elbow contractures were also observed. Multiple skin-covered osteochondral spurs were observed at the elbow and knee joints. An infantogram was taken; it demonstrated a near-complete absence of the mineralization of the entire skeleton except for the mandible, bilateral clavicles, and iliac bones (). These features were consistent with the antenatal diagnosis of HC. |
A 69-year-old woman was admitted complaining of sudden deterioration of right pre-existing hemiplegia (day 1). She continued to have mild right hemiplegia after 2 previous strokes. Apart from diabetes mellitus, there was no other remarkable medical history. Brain magnetic resonance imaging showed acute infarct in the left corona radiata, which was surrounded by chronic infarct. The left ventricle was asymmetrically enlarged due to periventricular tissue loss. There was bilateral leukoaraiosis. No abnormal findings could be seen in structures known to be associated with vomiting (hypothalamus, pituitary gland, and brainstem). After admission, recurrent vomiting developed at intervals of -1 week. The follow-up magnetic resonance imaging was unchanged.\nOn day 39, she was transferred to our department for rehabilitation. She was alert and her Mini-Mental State Examination score was 19/30. On neurologic examination, she had right hemiparesis with sensory abnormalities, accompanied by right facial palsy and mild dysarthria without aphasia. Deep tendon reflexes were increased in the right limbs. She did not complain of abdominal symptoms, nor was there anorexia, nausea, diarrhea, or constipation.\nDuring rehabilitation, sudden vomiting continued at intervals of -1 week. The vomiting was repetitive and stereotyped. She denied vomiting prior to the recent stroke. The vomiting rapidly developed following nausea and abdominal discomfort, during or after taking medications in the morning. The repeated vomiting occurred 2 or 3 times over a period of 1 hour. After cessation of the vomiting, associated anorexia and anxiety disappeared during the next 24 hours. During intervals of 1 week, the patient was free of associated episodes. Treatment with metoclopramide and mosapride was not effective. Tests for blood sugar, serum glucose, and hemoglobin A1c were consistently normal. To be diagnosed with CVS, various other disorders that can produce cyclic vomiting should be excluded, such as gastrointestinal, renal, neurologic, and endocrinologic disorders. To rule out other conditions associated with cyclic vomiting, she underwent brain magnetic resonance imaging, laboratory tests, simple abdominal x-ray, gastric endoscopy, and abdominal and pelvic ultrasonographies. Results for all diagnostic tests were unremarkable.\nBased on the typical symptoms and examinations, she was diagnosed as having CVS. On day 86, the patient was treated with imipramine hydrochloride (25 mg) at bedtime. There were no side effects of imipramine hydrochloride. The dose of this medication was gradually increased to 50 mg at bedtime. Eventually, her symptom was controlled. |
Two brothers presented to us, both with similar symptoms. Our first patient was an eight-year-old male who presented with an inability to stand or walk since the past two months, along with bilateral foot deformities. According to his father, the patient had developed a difficulty in walking and in climbing stairs, accompanied by frequent falls - about six months back. Gradually, he had lost the ability to walk even with support and was mainly confined to his bed-although he could sit up and crawl.\nThe patient’s intelligence was unaffected by the illness; he had no history of trauma, fever, fits, incontinence, or syncope and did not display vision, speech, or hearing abnormalities. A detailed review of the gastro-intestinal, genitourinary, respiratory, and cardiovascular systems showed no abnormality. The patients’ parents were first cousins, albeit unaffected by the disease themselves. However, out of five siblings, two of the patient’s sisters (12 and 14 years of age) and one brother (five years old) were affected by a similar illness. The patient had had an unremarkable birth history, had reached all the relevant milestones timely and was said to be taking a nutritionally adequate diet. As per the parents, all his vaccinations were complete and the past medical history was clear.\nOn general examination, the patient was well oriented in time, place, and person with his vitals, height, and weight all within the normal ranges. Regarding system-wise examination, the central nervous system examination showed no signs of wasting or abnormal tone in the upper limbs, the power in both the upper limbs was 4/5, and the deep tendon reflexes were normal when elicited. However, the bulk of both the lower limbs was decreased, with the right lower limb being slightly more wasted than the left. The tone was decreased as well and power in both the lower limbs was 2/5. The deep tendon reflexes of the lower limbs were absent. On further examination, Babinski sign was negative and the pupils were bilaterally and equally, reactive to light. The gait of the patient could not be assessed as he could not stand. However, there were no signs pointing towards cerebellar or cranial nerve dysfunction and mental functions and speech proved to be intact. On sensory examination, a higher threshold to pain and temperature was noted.\nOn examination of the musculoskeletal system, the patient had marked wasting in the anterior compartments of both legs. He demonstrated a bilateral foot drop with pes cavus (Figure )-more pronounced on the left side - and his feet were kept in a plantar, fixed position in the relaxed state. Contractures on the knees and Achilles tendon were seen. The upper limbs did not show any marked abnormality other than contractures over the interphalangeal joints of the fingers, with the skin prominently thicker there. The examinations of all the other systems were unremarkable.\nAs per laboratory investigations: the complete blood count, electrolytes, and creatine-phosphokinase levels were all within the normal ranges. The nerve conduction velocities were markedly decreased. A sural nerve biopsy was carried out and a subtotal reduction in myelin fibers was noted, along with focal endo-neuronal edema. No granuloma formation or inflammatory component could be identified. Based on the clinical, hereditary, and investigative findings, the patient was diagnosed with CMT disease, type 2.\nIn terms of management, no specific medical treatment is available, but the patient was referred to the orthopedic and rehabilitation departments to manage the foot deformity.\nOur second patient, brother of the first patient, was a five-year-old male who presented with difficulty in walking and frequent falls since the past two months. Gradually, his condition had progressed and his distal weakness had worsened, due to which he had been unable to walk without support since the past two weeks. Unlike his brother, the patient could still walk with support, although by dragging his feet. There was no significant difference in the history and examinations of this patient when compared to his brother and similar investigations were carried out, wherein the sural nerve biopsy showed nerve bundles with adequate myelin. Based on the above information, a diagnosis of CMT disease was made here as well and the child was similarly referred to the orthopedic and rehabilitation departments.\nConcerning the apparent autosomal recessive mode of inheritance, the parents of the boys were counseled accordingly regarding the implications of having more children in future and the manner in which their children could further propagate the condition. Additionally, they were counseled to bring in their affected daughters with reportedly similar symptoms for an evaluation and any possible rehabilitation as well, even though the parents described their status as nonambulatory. |
A nulliparous and unmarried 26-year-old woman has been presented to the gynecological department with a painless mass protruding from her vagina. On examination, a 2 cm polyp was seen filling the vagina and exteriorised at the vulva. The polyp was removed and was diagnosed as endocervical polyp. Six months later, the patient was readmitted for a recurrence of the polyp witch was resected. On microscopic exam, the polyp was composed of interlacing fascicles of elongated spindle cells with only two mitotic figures per 10 high power fields (HPFs) (). It was associated to ulcerations and inflammatory infiltrate. No glandular formation was found. Initial polyp was reviewed, and disclosed some focal increase in stromal cellularity with mild nuclear atypia (). No mitotic activity was noted. The diagnosis of MA was suggested and a total hysterectomy was indicated. Before debuting the treatment, a second recurrence of the polyp was noted. The recurrent polyp measured 6 cm. At cut surface, it was solid with white-grey to tan appearance. Microcytic formations were observed (). HThe histological exam showed an intimate admixture of benign appearing gland and sarcomatous stroma with areas of sarcomatous overgrowth (50% of the tumor). The glandular epithelium was primarily of endocervical type presenting phyllode-like features (). Neither atypia nor mitotic activity was seen in this component. Sarcomatous areas around glandular component showed a low-grade endometrial stromal sarcoma appearance with small foci of benign cartilage (). Nuclear atypia was low to moderate; mitotic rate was 4 per 10 HPFs. Areas of sarcomatous overgrowth displayed a range of appearance ranging from paucicellular with myxoid stroma to hypercellular epitheliod morphology (). Mitotic activity was high (25 mitosis per 10 HPFs). There was no clear demarcation between low grade and high-grade stromal components. Immunohistochemical study demonstrates strong positivity of stromal cells for vimentin and desmin suggesting a rhabdomyosarcomatous differentiation. The patient was lost for follow-up. |
The 8-month-old boy was born at term without any unusual birth history (38 weeks, 3,150 g, by Cesarean delivery) to a 45-year-old father and 36-year-old mother. He had one brother (12-year-old) and sister (8-year-old). None of the family members had any medical history during the growth period.\nHe was admitted to the pediatric department due to an initial seizure event following aspiration pneumonia and was referred to our clinic for the evaluation of unexplained neuroregression. Although he was hypotonic from birth, he achieved a social smile at 3 months and started head control during the first 4 months. He rolled over, and nearly grasped his toys with prone position at 6 months. Generalized tonic–clonic type seizures at 6 months were his first clinical symptom, a detailed history revealed delays in developmental milestones after that. Electroencephalogram (EEG) findings showed abnormal awake and sleep recordings due to slow background activity, suggestive of diffuse cerebral dysfunction with symptomatic or cryptogenic seizures. Magnetic resonance imaging showed cerebral hypoplasia especially in the frontal and temporal lobes at approximately 4 years of age. He was observed at the outpatient clinic for developmental delays associated with encephalopathy and seizure events, which occurred hundreds of times for 2 years and were fairly well-controlled with valproic acid, phenobarbital, and clonazepam.\nAt 26 months after surgery for bilateral cryptorchidism, progressive respiratory difficulty persisted and weaning from the ventilator was not possible; repetitive aspiration pneumonia occurred as he was unable to proceed with sputum expectoration. Therefore, tracheostomy was performed and night-time breathing using a ventilator was maintained subsequently. At the time of admission, repetitive hand flipping without purpose and lip smacking was observed during examination, although epileptiform discharges were not observed during EEG, we decided to proceed with additional evaluation other than that previously considered at this point. The various clinical features of the patient are described in Table .\nThere were no abnormal findings based on laboratory investigation, and genetic analysis of mutations including Prader-Willi gene, spinal muscular atrophy gene, and other chromosomal aberrations. Chromosome analysis revealed a 46, XY karyotype. A muscle biopsy also demonstrated no abnormal findings. |
A 58-year-old female visited the Cognitive Disorders and Dementia clinic in March 2016, with a 10-month history of gradually progressive language disturbance. The initial symptoms appeared 4 years ago, when the patient started talking gibberish during conversations at work, without any perception. These events caused some trouble with her colleagues, and lead her to quit the job. Recently, 10 months ago, her family found she accidentally said wrong but similar words in the middle of conversations. The disease was gradually worsened. From 6 months ago, she also began complaining of having trouble in reading. In recent a few months, her speech and behavior had begun to slow. In addition, memory deterioration was observed since the past 4 months, and she intermittently cried alone. Two months prior to the visit, she could speak only one or two words, but was unable to construct complex sentences. She spoke less than before, and almost didn't talk. She was taking anti-hypertensive drugs without having any specific family history. She had no past history of smoking and alcoholism.\nNeurological examination during the first visit revealed right upper and lower limbs bradykinesia, mild rigidity in both sides of upper limbs, and ideomotor apraxia on both sides. The arm swing was reduced during walking. There were no symptoms of rigidity, myoclonus, alien hand, or cortical sensory loss. There were no abnormalities in eye movement and postural instability. Fluency of speaking was very poor, and she frequently answered "Don't know" to complex instructions. Her repetition was impaired to some long sentence.\nFor overall evaluation of patient's cognitive impairment, neuropsychological assessment and Korean version of Western aphasia battery was carried out on the second day of hospitalization. She had 6 years of education and was right-handed. She achieved 7 point in the Korean version of Mini-Mental State Examination. In most of the tests such as Backward digit span, Seoul verbal learning test, Rey complex figure test (RCFT) copy, RCFT recall, controlled oral word association test (COWAT), and Stroop test, she was unable to understand the instructions, or got low grades (). In the results of the K-WAB, the fluency score was 14/20 (61 percentile), and slow, effortful and hesitant speech were accompanied with agrammatism and intermittent phonemic paraphasia. The comprehension score was 128/200 (56 percentile). The score was relatively lower than the fluency score, but she had comprehension disabilities about grammatically complex instructions during the command performance test and the Yes/No test, while performed well in simple instructions. The Naming score was 54/100 (66 percentile) and there was limited response at the COWAT, sentence completion, and sentence response. The repetition score was 44/100 (36 percentile).\nBrain MRI showed left parieto-temporal cortical atrophy (). F-18 fluorodeoxyglucose positron emission tomography showed diffuse hypometabolism in the left fronto-parieto-temporo-limbic lobes, and in the left striatum & thalamus (). In addition, the F-18 FP-CIT PET showed a decrease of uptake in the left striatum. Subsequent evaluation by F-18 florbetaben PET revealed brain amyloid plaque load score 1 (negative finding) (), and it confirmed the beta amyloid deposition, which represents Alzheimer's disease (AD)-related pathology was not combined. |
A 10-week-old girl presented to another hospital with fever, refusal to eat, grunting respirations, and hypertonicity of 48-hour duration. All symptoms began one day after she had received the first dose of the combination Infanrix-IPV+Hib vaccine (a combined vaccine against diphtheria, tetanus, pertussis, polio, and Hib infections). Her parents reported that she had been perfectly healthy the day before vaccination.\nPast medical history revealed that the patient had been born at 31 weeks' gestation after premature rupture of the membranes; maternal fever was documented during delivery. She was hospitalized in the neonatal intensive care unit and treated with empiric antibiotics for 3 days pending blood culture results. The rest of her hospitalization was uneventful, and she was discharged at the age of 5 weeks in good medical condition.\nAt the present admission to the other hospital, bacterial meningitis was suspected on the basis of abnormal cerebrospinal fluid (CSF) cell count (2358/mm3, with neutrophil predominance 60%), protein, and glucose (235 mg/dL, 1 mg/dL, resp.) despite negative findings on direct microscopy of a CSF sample. Empiric treatment with ceftriaxone, vancomycin, and dexamethasone was started. Two days later, both blood and CSF cultures grew Haemophilus influenzae, which was identified as type b using latex agglutination-based antigen detection test. The patient's clinical status gradually improved over the next 4 days, when a secondary fever was noted in addition to new-onset seizures. Treatment with phenobarbital was initiated, and the patient was transferred to our tertiary medical center.\nAt admission to our department, magnetic resonance imaging (MRI) study revealed subdural fluid collections in the posterior fossa and around the hemispheres. Given the patient's clinical and neurological deterioration as well as the high levels of inflammatory markers, a tentative diagnosis of subdural empyema was made. The patient was transferred to the neurosurgery department where she underwent bilateral craniotomy. Findings included a subdural empyema with severe brain edema. The empyema was drained. The antibiotic treatment was continued and combined with anticonvulsant and supportive treatment, leading to gradual improvement.\nThe patient was discharged from our institute after 20 days, during which she received ceftriaxone. On her discharge, she was clinically stable and had normal findings on neurologic examination except for mild hypertonicity of the left arm and mild left torticollis. On follow-up visits, 2 months later and at age 1 year, brainstem-evoked response audiometry (BERA) was within normal range. There was a mild global developmental delay with normal findings on neurologic examination. |
Patient 1 who was a 43-year-old male was first referred to our institute because of an allergic reaction to metronidazole with oral mucosal erosions during his sixth treatment for amebic colitis. He had a history of 5 recurrent episodes of amebic colitis (last treatment was 3 years earlier, using metronidazole followed by paromomycin) (). Besides oral mucosal erosions, he complained of soft or loose stools 2 to 3 times daily without abdominal pain or fever. Although we proposed admission for close observation during his treatment, he selected outpatient treatment at a nearby hospital. Three months later, the patient returned to our hospital because his wife was also diagnosed with Entamoeba histolytica infection. The couple operated a Japanese inn in a suburban area of Tokyo. They had no travel history to developing countries within the past 10 years. He denied extramarital sexual intercourse and oral–anal sexual contact. He did not have any past histories, except for recurrent amebiasis. There were no reported outbreaks of gastrointestinal diseases for over 10 years in the couple’s residential area. Results of a blood examination showed no particular abnormalities (). Although a direct microscopic examination was negative for any protozoa, the patient’s stool tested positive for E. histolytica with polymerase chain reaction (PCR). Total colonoscopy showed white-coated ulcerative lesions at the cecum (). In a pathological examination, Entamoeba was identified on the surface mucosa in a biopsy sample (). We treated the patient with a lumen-active agent (paromomycin monotherapy) because (1) he had a past history of acute oral mucosal lesions owing to metronidazole, (2) tinidazole is not approved to treat amebiasis in Japan, and (3) his symptoms of E. histolytica were mild. Negative PCR results for E. histolytica were confirmed in stool samples taken at 1, 2, and 4 months after treatment. Follow-up colonoscopy showed that lesions of the cecum were completely resolved (). |
A 4-year-old girl was referred to our hospital with hypertension and suspected aortic coarctation. She was a full-term normal delivery without any antenatal or postnatal complications and a birth weight of 2.5 kg. At 5 months of age, heart murmur due to a small ventricular septal defect was diagnosed at a referred hospital. At the age of four, a regular medical examination revealed elevated arterial blood pressure of 140/90 mmHg at the upper arm and weak femoral arterial pulse. She had no complaint of headache and no history of any type of seizure. In addition, her family history was not suggestive of neurofibromatosis. On physical examination at our hospital, she weighed 22 kg and her height was 106 cm. She had a strong pulse in the upper extremities and a weak pulse in the lower extremities, and posterior cardiac auscultation revealed systolic murmur of grade 4 (Levine scale) in the interscapular area. She also had more than 6 cafe-au-lait spots larger than 5 mm, and ophthalmological examination revealed multiple Lisch nodules of the iris. Brain magnetic resonance imaging uncovered multiple focal areas of signal intensity in the globus pallidus, thalamus, hippocampus, and dental nucleus on T2-weighted images. Chest radiography showed normal pulmonary vascularity and no cardiomegaly (cardiothoracic ratio, 50%), and the results of electrocardiography did not fulfill the criteria for left ventricular hypertrophy. Two-dimensional echocardiography showed increased left ventricular posterior wall thickness (6.8 mm; 120% of normal) with normal left ventricular systolic function. Pulsed Doppler echocardiography findings of the suprasternal notch and descending aorta indicated characteristic flow patterns of significant aortic coarctation (Figures and ). No abnormal intracardiac shunts were detected. Cardiac catheterization revealed ascending aorta pressure of 140/90 mmHg (mean, 120 mmHg) and distal thoracic aorta pressure of 100/80 mmHg (mean, 90 mmHg). Aortography of the descending aorta (left anterior oblique view) showed a 5 cm long hourglass-shaped thoracic coarctation at the Th5-to-Th6 level with the narrowest section having a diameter of 4 mm, as well as a large internal thoracic artery (). Cardiac surgery was performed, and the coarctation was excised and replaced with a 14 mm ePTFE graft without complications. Pathologic examination of the specimen showed the accumulation of smooth muscle cells and collagen tissue in the intimal layer of the thoracic aorta, resulting in hyperplasia that narrowed the lumen (). The patient was discharged in good hemodynamic condition without a difference in blood pressure between the arms and lower extremities. During the postoperative period, angiotensin converting enzyme inhibitor therapy was initiated because of persistent postoperative hypertension. |
We present the case of a 13-year-old female patient, known with severe visual field loss, who referred for another opinion regarding the ophthalmological diagnosis.\nAnamnesis at presentation revealed that at the age of 9 years and 3 months, on a routine ophthalmological examination, papillary calcification and retinal hemorrhage were discovered in the left eye. At that moment, the suspicion of intracranial calcifications was raised. The patient underwent clinical neurological examination, EEG, and cerebral MRI, all of them revealing a normal aspect. The patient was also recommended fluorescein angiography, which showed papillary autofluorescence. The diagnosis established then was papillary drusen in both eyes, buried in the right eye and mixed in the left eye and the patient was recommended to keep it under observation, together with a periodical examination of the visual field.\nThe patient had had multiple examinations of the visual field over the time.\nThe first visual field examination of the right eye showed an arcuate nasal defect, in the superior nasal quadrant, sketching an aspect of nasal step, structure of the sensitivity defect that in 3 years time evolved into a quadranopsia.\nIn the left eye, the first visual field examination showed inferior nasal quadranopsia, extended superiorly with a nasal arcuate defect respecting 20° centrally, which after three years evolved into a paracentral diffuse defect with an island of central vision of 5°.\nHowever, over the time, the examination of the visual field was made with different types of machines, and no correlation of the modifications could be made objectively.\nThe patient received several different diagnoses from several different ophthalmologists, among which optic nerve drusen; papillary oedema and hamartoma have to be mentioned.\nAt presentation, the patient’s visual acuity was 20/ 20 with correction for the RE and 20/ 20 without correction for the LE, with a refraction ROD: -1 DSf<> -0.75 DCyl, 179* and ROS: +0.50 DSf<>-0.75 DCyl, 167* and a cycloplegic refraction: OD: -0.75 DSf<> -1 DCyl, 168*, OS: +0.75 DSf<> -1 DCyl, 170*.\nThe intraocular pressure was 19 mmHg GAT in the right eye and 13 mmHg GAT in the left eye.\nSlit lamp examination of the anterior segment revealed no pathological changes for both eyes, and the red-discrimination test was also normal.\nFundoscopy presented only with papillary pathological modifications.\nThe optic disc in the right eye was elevated, with relatively clear margins, pink color, and the absence of cupping. At 5 o’clock meridian, a nodular yellow mass, with irregular outline, could be noticed ().\nIn the left eye, the optic disc was also elevated, pale, of irregular outline, and the absence of cupping was noticed. Nodular, yellow, reflective protrusions, with irregular contour and brambleberry shape could be noticed ().\nThe retinal vessels, the macula, and the retinal periphery presented no pathological changes in either of the eyes.\nThe clinical examination suggested the diagnosis of optic nerve drusen in both eyes. B-scan ultrasonography and optical coherence tomography (OCT) examinations were used for the confirmation of the diagnosis.\nB-scan ultrasonography is considered the gold standard method for the detection of optic disc drusen. In this patient’s case, it showed round, hyperechoic structures, observed at the optic nerves of both eyes. The A-scan mode, which was overlapped on the structure only for the left eye, showed hyperreflectivity at the anterior side of the optic nerve, of supraretinal intensity.\nOptical coherence tomography is a useful examination in the assessment of the structure and the anatomical shape of the drusen, and in the analysis of retinal nerve fiber layer (RNFL) and GCL-IPL complex.\nFor patients under 18 years old, however, there is no normative database regarding the normal values of the analyzed parameters, therefore these analyses are useful only for patient’s follow-ups.\nThe OCT scan of the optic nerve showed a prominent aspect of the optic disc, with a lower value of average RNFL thickness in the left eye compared to the right eye ().\nMacula was structurally normal, with an asymmetry of macular thickness, thinner in the left eye, compared to the right eye ().\nThere was also an asymmetry of thickness regarding the GCL-IPL complex, which was thinner in the left eye compared to the right eye ().\nThe investigations confirmed the diagnosis of optic nerve drusen in both eyes.\nThe differential diagnosis in the case of this patient took into consideration the following pathologies:\n• Papilloedema – excluded by B-scan ultrasound;\n• The existence of an intracranial expansive process – excluded by clinical and imagistic examinations;\n• Optic nerve tumors\no Astrocytic hamartoma – the proliferation of astrocytic cells occurs above the optic disc, whereas optic disc drusen is located in the substance of the optic nerve.\no Optic nerve sheath meningioma – excluded by clinical and imagistic examinations.\n• Leber optic neuropathy – it typically presents with severe loss of central vision.\n• Infiltration of the optic nerve (leukemia, lymphoma) – excluded by normal laboratory tests.\nThe patient’s visual field examination at presentation revealed a superior nasal altitudinal scotoma at the right eye (), and at the left eye an important constriction of the visual field, with the preservation of a small 15* island of temporal paracentral vision ().\nThe patient was not recommended any treatment, but only periodical follow-up with visual field examination at every 4-6 months, and annual OCT.\nThe patient came back a year later for follow-up. At examination, there was no progression of the visual field alterations (,), but the intraocular pressure was at the superior level of the normal range, 21 mmHg GAT for the right eye and 20 mmHg GAT for the left eye.\nTherefore, the patient was recommended the treatment with a prostaglandin analogue to prevent the exacerbation of the visual field loss in order to attenuate the mechanical compression on the ganglion cells axons and to improve the blood flow to the optic nerve head. |
In January 2016, a 72-year-old man with no notable medical history presented at our emergency center for tropical diseases a few days after returning from a 2-week vacation in Cuba. He described skin lesions without pruritus, fever and diffuse myalgia. Clinical examination revealed a diffuse papular rash on his arms, legs and trunk (Fig. A) and two ulcerated lesions on the oropharynx. Considering his recent travel and no sexual risk history, the most likely diagnosis was a tropical infection. Considering the current polemic and excitement, Zika infection was considered as a likely hypothesis. The patient was screened for Zika, dengue and rickettsiosis and put on a 10-day course of empiric antibiotic treatment with doxycycline. The skin rash disappeared completely within 2 weeks, but the laboratory results did not confirm the hypothetic diagnosis.\nIn March 2016, he presented to the ophthalmic emergency department with a rapidly evolving, painless, bilateral loss of vision. Within a few days, his visual acuity dropped down to 0.1 in the right eye and 0.05 in the left eye. without any other accompanying symptoms (no ocular pain, neurological symptoms, headache or scalp tenderness, jaw claudication, fever, proximal myalgia, arthralgia or fatigue). He reported not having been exposed to any toxins, drugs or vaccines in the weeks preceding the loss of vision. Fundoscopic examination revealed bilateral papillary edema with thunder hemorrhages in the right eye (Fig. B). Goldmann’s visual fields showed an altitudinal superior deficit in the right eye and a large central scotoma in the left eye with a small preserved inferior temporal area. He was hospitalized and immediately started on high doses of corticosteroids and aspirin. Fluorescein angiography of the retina excluded arterial leakage or obstruction. Orbital magnetic resonance imaging (MRI) revealed an increase of the signal of the right optic nerve and the appearance of a hypersignal on the left on the STIR sequence, associated with an increase in the spiculous and irregular contrast intake of the intraconical fat around the sheaths of the optic nerves. This aspect confirmed the clinical suspicion of optic neuritis (Fig. C, D).\nConsidering the large differential diagnosis of optic neuritis, multiple tests were performed. Blood cultures showed no leukocytosis or raised C-reactive protein or erythrocyte sedimentation rates. Vitamins B1, B6 and folic acid were normal. B12 was found to be decreased at 133 pmol/L, which was not sufficient to explain the clinical picture. Infective causes of optic neuritis, such as human cytomegalovirus, varicella zoster virus, herpes simplex virus type-1, toxoplasmosis, Lyme disease, cat scratch disease, syphilis, Epstein–Barr virus and tuberculosis were all excluded either by serology or by cerebrospinal fluid polymerase chain reaction. Autoimmune disorders were also investigated and excluded by measuring autoimmune markers, such as antinuclear antibodies, antinucleoproteins, antiphospholipids, antineutrophil cytoplasmic antibodies, human leukocyte antigen-B51, cryoglobulin and antiaquaporin anti-bodies and anti MOG anti-bodies.\nFinally, an HIV infection with a viral load of 1.9E5 copies/mL in the serum and 4.8E3 in the cerebrospinal fluid was diagnosed. The CD4 count was 656 per mm3. A stored serum from 3 months previously was analyzed retrospectively and showed an HIV viral load of more than 106 copies/mL with a negative western blot. Based on these findings, the diagnosis of an acute retroviral syndrome was retained and antiretroviral (ARV) treatment with dolutegravir (Tivicay®, GlaxoSmithKline), tenofovir and emtricitabine (Truvada®, Gilead Sciences) was started a few days after presentation. Although HIV-RNA was rapidly undetectable with a CD4 cell count above 700 cells/mm3, the patient’s visual acuity did not improve. Five months after ARV treatment initiation and corticosteroid therapy, his visual acuity was 0.05 on the right and 0.02 on the left eye, respectively. Fundoscopic examination showed a marked atrophy of the optic disc. Optic coherence tomography showed a marked loss of retinal nerve fiber thickness throughout the entire optic disc, confirming the marked loss of retinal nerve fiber layer ganglions. The case is summarized in Fig. . |
A 27-year-old man had intermittent abdominal pain and mucosanguineous feces for 6 years. He was admitted to our hospital with complaints of dyspnea, fever, and worsening weakness.\nThe patient was diagnosed with CD (Montreal A2L3B1) 6 years previously. He had suffered from mucosanguineous feces, abdominal pain, and an anal fistula for 6 mo. Colonoscopy, biopsy, and multi-slice computed tomography (CT) enterography were performed. Negative blood tests were observed and no opportunistic infections were found. He was prescribed mesalazine 3 g/d for 1 year without complications but primary symptoms were only partially relieved. One year later, his symptoms of abdominal pain and loose stool were aggravated, and gastroscopy showed involvement of the upper gastrointestinal tract. He was treated with oral methylprednisolone 48 mg/d for 10 d. The dose was reduced by 4 mg every 2 wk without any improvement in symptoms. He continued to take mesalazine 2 g/d. In December 2018, reexamination with colonoscopy and biopsy showed stenosis of the sigmoid colon accompanied by numerous new ulcers. He was examined at another hospital and from then to the present, no extraintestinal manifestations occurred. The patient was advised by the doctor to undergo IFX therapy and he stopped taking mesalazine after excluding tuberculosis and other viral or bacterial infections. On December 3, 2018, he took the first dose of IFX 300 mg based on his weight (60 kg, dose 5 mg/kg). After 2 and 6 wk, he received the second and third IFX injection and a maintenance dose was planned every 8 wk thereafter. He responded well to this therapy, his symptoms disappeared and he had formed stools, and colonoscopy was planned after four doses of IFX. However, on January 21, 2019, 1 wk after the third injection, he suddenly developed dyspnea, fever, and worsening weakness and was admitted to our hospital.\nThe patient had no previous medical history, and no history of chest trauma or cardiac procedure.\nThe patient had no family history\nHe was febrile, tachycardiac (120 bpm), and normotensive. Our clinical considerations were heart disease or pulmonary embolism.\nAn electrocardiogram on admission was negative for acute changes and his troponin I and creatine kinase-MB levels were normal. There were no abnormalities in his white cell count or platelet count, and the coagulation index was normal. Viral titers including Epstein-Barr virus, cytomegalovirus, coxsackie B virus, human immunodeficiency virus and bacterial serologies were negative. A T-spot test was also negative. Blood, stool, and urine cultures were all negative. Laboratory examinations were remarkable for an elevation in C-reactive protein (CRP) to 65.24 mg/L (reference < 5.00 mg/L) and an elevated erythrocyte sedimentation rate of 48 mm/h. The procalcitonin level was normal.\nCT scan of the chest revealed a large pericardial effusion and a small right-side pleural effusion (Figure ), and excluded the diagnosis of pulmonary embolus. An echocardiogram showed a large pericardial effusion and normal left ventricular function (Figure ). Then successful ultrasound-guided pericardiocentesis was performed and 600 mL hemorrhagic fluid was drained. |
The first patient was a 79-year-old man admitted to the Dermatology Department with a nodular lesion located on the tip of the nose which appeared 2 months before. Initially, the lesion presented as an erythematous papule which increased rapidly in size and transformed into a nodule with an ulceration on the surface. The patient was treated with systemic antibiotics without any improvement. He had numerous comorbidities such as severe chronic obstructive pulmonary disease, chronic kidney disease, type 2 diabetes, previous myocardial infarction and was a smoker (80 pack-years).\nOn examination there was a palpable, exophytic, erythematous lesion with a large telangiectasia and central ulceration located on the tip of the nose (). The diameter of the lesion was 5cm. Differential diagnoses included pyoderma gangrenosum, keratoacanthoma, skin cancer and granulomatosis with vasculitis. There were no abnormalities in the nasal and nasopharyngeal fiberoscopy, the ulcer swab was sterile, antinuclear antibodies (ANA) and antineutrophil cytoplasmic antibodies against proteinase 3 (PR3) and myeloperoxidase (MPO) were negative. The biopsy of the lesion was performed, and the histopathological findings revealed features of partially keratinizing squamous cell carcinoma (SCC) (\n). Thoracic HRCT (High-Resolution Computed Tomography) revealed an infiltrative lesion of the upper part of the left lung cavity with dimensions 54 × 38mm adjacent to the pulmonary artery trunk, entangling the aorto-pulmonary window with bronchial infiltration into segments 1–3 and the upper left pulmonary vein as well as enlarged lymph nodes (). The bronchoscopy revealed an infiltration spreading along the apicoposterior segment of the left upper lobe (LB1 + 2) bronchial wall. The histopathological examination of the biopsy taken from this lesion revealed partially keratinizing squamous cell carcinoma, CK5/6 (+), p63 (+) (), which in combination with the result of histopathological examination from the skin lesion confirmed the diagnosis of disseminated squamous cell lung cancer. To exclude other metastases, diagnostic imaging was performed, and no other abnormalities were found. Due to the size of the lesion, general condition and numerous comorbidities, the patient was disqualified from surgery and chemotherapy with only palliative treatment implemented. |
A 65-year-old male went to the ear, nose, and throat outpatient department with the disturbance of dysphagia to solids for 5 months. Dysphagia was proceeded and he localized the blockage to neck. He had a 10 kg weight loss for 6 months and was only able to eat soft diet, but not liquid due to aspiration. He had no experience of odynophagia, heartburn and regurgitation of foods. He had hypertension, hypertriglyceridemia, and low high density lipoprotein cholesterol levels, accordingly it met the diagnostic criteria of metabolic syndrome. On physical examination, oral and oropharyngeal check-up was trivial. Indirect laryngoscopy and fibreoptic examination of laryngopharynx didn't indicate any pathology. Cranial nerve examination was normal. The patient had rahter limited neck movements and neck pain. A video fluoroscopic swallowing test was done and revealed blockage to the passage of dye opposite to junction of fourth and fifth cervical vertebra (). We also identified bony bridging anterior to body of fourth, fifth and sixth, seventh cervical vertebra ( & ). We diagnosed to have DISH as a grounds for dysphagia and did operation. An anterior neck approach was used. Under general anesthesia, the patient was placed supine with sandbag under the shoulders. A horizontal neck incision was made starting in the midline at the level of the thyroid cartilage and extended laterally up to sternocleidomastoid muscle on the right side. Platysmal muscle was dissected. Dissection was carried deeper and medial to sternocleidomastoid muscle and lateral to strap muscles. Internal jugular vein and carotid sheath were identified and retracted laterally. By blunt dissection medial to carotid sheath, the esophagus was identified and retracted anteriorly. The hardening prevertebral fascia was identified and the longus colli muscle was separated for placing retractor. Calcified anterior longitudinal ligament overlying C4–C5 vertebrae was seen and were removed with the rongeures and drilling of high speed drill (). A surgicel placed over the raw bone to prevent damage to the esophagus. The draining tube was inserted in operative site. The patient was tolerable in postoperative state (). There was mild aspiration after surgery, but no lesions such as pneumonia, hoarseness and esophageal related problem were observed. There was no cervical spine instability. The patient was followed up video fluoroscopic swallowing test at 3 weeks after surgery and reported remarkable reduction in dysphagia (). He was followed up monthly for the next 6 months and was completely alleviated of dysphagia. He gained 5 kg body weight, too. |
A 21-year-old Middle Eastern woman, primigravida, was referred due to a suspected abnormality found in the fetal chest on the antenatal ultrasound. She was otherwise a healthy woman without any significant pregnancy-related medical issues. She and her husband are not consanguineous. No significant family history on their both sides.\nThe ultrasound at 28th week of gestation revealed a large pericardial effusion and compressed lungs, posteriorly against the chest wall. There was diaphragmatic eventration on the right side with a solid mass protruding into the right hemithorax with significant lung compression (). The mass was the left lobe of the liver, measuring 3.73 cm × 2.40 cm × 3.03 cm, not compressing the heart (). Fetal echocardiogram showed normal heart structure with global massive pericardial effusion, compressing lungs bilaterally with good biventricular function. The cardiac magnetic resonance imaging (cardiac MRI) showed no systemic vascular compression from the solid mass. There were no signs of cardiac tamponade.\nParental multidisciplinary counseling was carried out by a team consisted of maternal-fetal medicine, neonatology, cardiology, and pediatric surgery experts and decided for conservative treatment without intervention until term. The woman received two doses of corticosteroids to enhance lung maturity; however, she declined prenatal genetic testing for karyotype and microarray comparative genomic hybridization (array CGH). Due to persistent massive pericardial effusion and concerning issues of a likely need for an immediate neonatal pericardiocentesis to facilitate ventilation and lung expansion, the woman agreed to undergo transthoracic fetal pericardiocentesis at 37th week of gestation. Twenty-seven milliliter of serosanguinous fluid was aspirated from the pericardial space under ultrasonographic guidance. The baby had fetal bradycardia, and a cesarean section was performed.\nThe outcome was a male baby with a birth weight of 2330 grams (5th centile as per neonatal male growth chart). The fetus was small for the gestational age. The APGAR score was 6 and 8 at 1st and 5th minute, respectively. The neonate was electively intubated and admitted to the neonatal intensive care unit. The chest radiograph () showed dense haziness of both lungs obliterating the normal cardiac shadow, air bronchograms, and features of compressed lungs. High inflation pressures were required to maintain preductal saturation in the normal range. There was no need for postnatal pericardial fluid drainage. The transthoracic echocardiogram showed a “large” patent ductus arteriosus (PDA) with left-to-right shunting and a rim of pericardial effusion. The ductus arteriosus became “tiny” in size on subsequent echocardiograms. The chest computed tomogram with contrast suggested an eventration of the right hemidiaphragm with the left lobe of the liver residing in the chest. Small pericardial and pleural effusions were also seen (). The neonate was taken to surgery, and during the laparoscopic repair of the hernia, a large infracardiac central tendon diaphragmatic defect was seen and repaired without the need for a synthetic mesh.\nPostoperative tomogram of the chest evidenced an elevation of the left hepatic lobe and the medial aspect of the right lobe into the central part of the hemithorax in the retrosternal region, with a mass effect displacing the heart superiorly, posteriorly and to the left side. The herniated liver tissue was smaller than the preoperative study.\nThe baby was successfully extubated and tolerated breathing room air, only to require continuous positive airway pressure (CPAP) and oxygen after an inguinal hernia repair at the age of six months. At the age of seven months, he was breathing room air and was discharged in a stable condition. |
Case 1: Ms. K, a 70-year-old woman who immigrated to the US at the age of 53, began complaining of watery eyes, chest pain, lower back and joint pain, leg cramps, and weakness. She harbored delusions of being afflicted with high blood pressure, uterine cancer, blood cancer with bone metastasis, brain cancer with extensive metastasis, and believed that her brain was "shrinking."\nShe first visited a cardiologist in 2013, complaining of intermittent episodes of chest pain over six months. An electrocardiogram (EKG) at the time showed bradycardia, a first-degree atrioventricular (AV) block and a left bundle branch block. At her sixth visit with the cardiologist, she mentioned non-specific somatic complaints, which she said were because of a "hematological problem." Five months later, she was evaluated for “renal hypertension” and imaging studies showed a renal cyst. While she did not follow up with the nephrologist, she continued to make hospital visits for persistent chest pain. A full medical workup was completed and found to be normal at every ER visit. Medical records from a prior ER visit revealed that she had made claims that the Russian military entered her residence and stole her urine, resulting in the disappearance of her kidneys.\nMs. K was brought to the ER by the police after she showed up with a can of gasoline and matches at her primary doctor's office and threatened to burn it down. She was irate and claimed that all of her doctors, in the US and in her home country, were concealing the fact that she had oncological issues. She vehemently denied any psychiatric illness, stating that these diagnoses appeared on her records as a result of a rumor started by an envious former colleague. She explained that because she had been a former practicing neurologist in her home country, she was confident that she had cancer. Upon repeated questioning, she admitted that in a final bid to receive the medical attention that she was rightfully due, she had devised the plan to burn down the doctor’s office.\nWhile in the psychiatric inpatient unit, she remained somatically preoccupied and reported abdominal pain, lower back pain, and weakness, which she attributed to the metastatic spread of uterine cancer to her spine. Radiological imaging confirmed no evidence of uterine cancer, though a thickened endometrium was reported with recommendations for further testing by tissue sampling. Because Ms. K’s ability to make rational and reasonable decisions about her psychiatric and medical treatment was compromised by her delusions, the team sought and was granted a court order allowing them to treat her over her objection. |
We report a case of a 37-year-old male who was diagnosed with left-sided colon cancer in 2015 and underwent resection of the primary cancer with a protective loop ileostomy in another hospital followed by a stoma reversion in January 2016. Primary tumor pathology showed a 5 cm moderately differentiated adenocarcinoma (T3N1bMx, KRAS wild type, MSS/MSI-L intact protein) in the splenic flexure. Staging computed tomography (CT) of the chest, abdomen, and pelvis (CAP) was performed and showed 3 liver lesions with elevated blood levels of carcinoembryonic antigen (CEA) of 8 ng/ml. Therefore, the patient underwent chemotherapy and was started on oxaliplatin, capecitabine, and bevacizumab. The CT CAP was repeated after completing the course of treatment and showed that he had some response to chemotherapy. The patient was then kept on maintenance chemotherapy (bevacizumab & Xeloda) and referred to our hospital for possible further management after completing a total of 12 cycles of therapy.\nIn our hospital, the patient was re-evaluated with a CT CAP and hepatic magnetic resonance imaging (MRI). The liver MRI showed a lesion in segment 7 posteriorly, measuring 1.5 × 2.1 cm, a lesion in segment 6, measuring 3 × 3 cm, and another suspicious small lesion in segment 4A. These lesions were slightly larger than the lesions on previous images, and a positron emission tomography (PET) CT scan confirmed the marginal progression of the disease in the liver (Fig. ). In October 2017, a multidisciplinary decision was made to proceed with the parenchyma-preserving wedge resection with the possibility for a major resection if necessary. Preoperative CT of the abdomen with volumetry showed an estimated volume of the possible future liver remnant (left liver lobe) of approximately 51% (Fig. ). Unfortunately, an intraoperative ultrasound showed the largest lesion with close proximity to the main right portal vein.\nKnowing that the preoperative liver function test was normal and the future liver remnant by the CT volumetry was more than 50%, to avoid having a positive margin by preserving the right portal vein, the decision was made to proceed with the right hepatectomy.\nThe lesion in segment 4A was tiny, very close to segment 8 and away from the middle hepatic vein (Fig. ). Therefore, it was included in the resection of the right hepatic lobe without concern of compromising the blood supply or drainage of the left hepatic lobe, and the parenchymal resection of the segment 4A was limited.\nThe quality of the remnant liver was grossly marginal, possibly due to extensive preoperative chemotherapy. Intraoperative ultrasound showed good perfusion of the remaining left lobe, with the normal flow in the left hepatic artery, left hepatic vein, middle hepatic vein, and left portal vein. Pathology of the resected right lobe showed 3 metastatic nodules ranging between 1.2 and 4 cm, with negative resection margins of at least 1.5 cm. The background liver of the resected right lobe was normal (Fig. ).\nPostoperatively, the patient was acidotic with a high lactate level of 13 and an international normalized ratio (INR) of 3. He was kept intubated with inotropic support. Liver Doppler ultrasound was performed again and showed adequate blood flow in the remnant liver. However, the patient’s liver function continued to deteriorate, and he became more encephalopathic but with repeatedly normal liver Doppler ultrasound demonstrating the patency of the vasculature on days 1, 2, and 6 postoperatively.\nThe case was discussed with the transplant team to consider liver transplantation at this stage. Given that this patient was young, we decided to proceed with the salvage LT. The patient underwent deceased donor orthotopic liver transplantation in November 2017. The pathology of the explanted liver showed extensive necrosis (Fig. ). The patient received induction immunosuppression (IS) therapy with methylprednisolone and then maintenance IS with steroids, tacrolimus, and mycophenolate. Mycophenolate was replaced by sirolimus two months post-transplantation for its anti-proliferative effect. The patient recovered well and was discharged home one month after the transplantation in good general condition. He had 2 episodes of mild acute cellular rejection, and the last episode was more than 12 months ago, both of which resolved completely with low-dose pulse steroids. His most recent follow-up (40 months after the transplantation) showed normal liver function, normal CEA of 1.6 ng/ml and the CT CAP showed no evidence of recurrence or metastasis. |
A 46-year-old male was successfully resuscitated for out-of-hospital cardiac arrest due to ventricular fibrillation (Fig. ). Coronary angiography immediately after admission to the county hospital revealed coronary vasospasm but no coronary artery disease (Fig. ). After intracoronary administration of glycerol trinitrate the coronary system exhibited regular flow without any relevant stenosis (Fig. ). Pulmonary embolism, aortic dissection and other potentially reversible causes were ruled out by computer-assisted tomography (CT) of the chest and lab-testing. Mild therapeutic hypothermia was established for 24 h. For aspiration pneumonia he was treated with ampicillin and sulbactam.\nBecause of the development of a severe acute respiratory distress syndrome five days after admission our ECMO team established a veno-venous extra-corporeal membrane oxygenation (vvECMO) system using a 31 Fr bi-caval cannula and transferred the patient to our center (Fig. ). Another CT of the chest showed progressive bi-pulmonary infiltration but no pulmonary embolism. Subsequently sufficient oxygenation was delivered by combined ECMO treatment and lung protective ventilation.\nDuring his stay in the intensive care unit the patient underwent recurrent episodes of cardiac arrest with pulseless electrical activity (PEA, Fig. , Fig. ) that were not associated with hypoxemia as he was on full ECMO support. There was no evidence for other causes for PEA like tension pneumothorax or embolism in the bedside ultrasonography and echocardiography. Disturbances in electrolytes could be ruled out be point-of-care testing. As we could not reach a return of spontaneous circulation after 15 min of resuscitation we successfully modified the established vvECMO to a veno-veno-arterial ECMO system by introduction of a 17 Fr delivering cannula into the right femoral artery in order to provide extracorporeal life support (ECLS). This procedure could be performed within 15 min without complications under ongoing CPR. During the following episode PEA was successfully terminated when coronary vasospasm was relieved by i.v. administration of glycerol trinitrate and verapamil while circulation was maintained by ECLS (Fig. , Fig. ). In total, the patient had experienced five episodes of resuscitation till then. A combined long-acting nitrate and calcium channel blocker vasodilatory therapy was established and successfully prevented further events. ECMO therapy could be stopped 14 days after implantation, weaning from mechanical ventilation was successful after 35 days.\nThe patient has no family history of cardiac death. He underwent patch-repair for supravalvular aortic stenosis during childhood. On day 6 transthoracic and transesophageal echocardiography revealed a remaining supravalvular aortic stenosis (Vmax 4 m/s, mean pressure gradient 37 mmHg) that was confirmed by CT (Fig., Additional file : Video S1). Older medical records showed, that the re-stenosis had been already detected during a rehabilitation exam 20 years ago but did not cause any symptoms. Since hemodynamics remained stable after initiation of vasodilatory therapy surgical repair was postponed until respiratory recovery. The stenosis was successfully relieved by supracoronary ascending aortic replacement on day 44 (Fig. ).\nThe patient had full neurological recovery and was discharged to follow-up treatment. A cardiac defibrillator was implanted for secondary prevention of the initial VF. |
A 32 year-old woman with a history of hypothyroidism and pre-eclampsia initially presented to an outside hospital with acute onset dense left hemiplegia, right gaze preference, and left-sided neglect. Her initial National Institute of Health Stroke Scale (NIHSS) was 14 and she had an admission Glasgow Coma Scale (GCS) of 10. A computed tomography (CT) angiogram of her neck revealed complete occlusion of the right cervical internal carotid artery (ICA). She was outside the time window for intravenous thrombolysis; however, she underwent mechanical thrombectomy using a stent retreiver device and aspiration (Penumbra System®, Alameda, CA). Immediately after the procedure, there was a successful restoration of the blood flow to the distal ICA, proximal middle cerebral artery (MCA), and to the anterior cerebral artery (ACA), with residual distal M2 occlusion. She was intubated for the procedure and was extubated in the following days. Her left-sided weakness persisted and a repeat CTA showed re-occlusion of the right cervical ICA. No further intervention was done and she was treated with aspirin and statin for secondary stroke prophylaxis. The stroke was deemed cryptogenic after work-up for a potential source was negative including an echocardiogram which demonstrated a normal ejection fraction, normal left atrial size, and negative bubble study. A workup for prothrombotic and hypercoagulable states were negative as well. Magnetic resonance imaging (MRI) of the brain was done which showed a large area of diffusion restriction with corresponding decreased apparent diffusion coefficient (ADC) and T2 hyperintensity in the right frontal, parietal, temporal lobes and in the basal ganglia with areas of hypointensities on gradient echo sequencing, which suggested infarction in these areas with some areas of hemorrhagic conversion (Figure ).\nSubsequently, she was discharged to an inpatient rehabilitation center. While at the rehabilitation center, about four weeks after her stroke, she developed moderate to severe insidious onset headache. A repeat MRI, done four days after the onset of headache, showed diffusion restriction (with corresponding decreased ADC) and a ring-enhancing lesion in the right basal ganglia which involved part of the previous ischemic stroke. An extensive area of T2 hyperintensity was seen around this lesion consistent with vasogenic edema (Figure ).\nWith a recent invasive procedure along with the MRI findings, the possibility of an abscess was entertained, even though she did not have systemic signs of an infection (afebrile, WBC count 7800/mm3, negative blood cultures). She was empirically started on broad-spectrum antibiotics (vancomycin, cefepime, and metronidazole) and admitted to our institute for further management. On day three of admission to our hospital, she developed a high-grade fever and had an acute deterioration in her mentation that progressed to coma. An MRI was repeated to evaluate for any progression of the disease and to obtain stereotactic images for drainage. In addition to the previously mentioned ring-enhancing lesion, the post-contrast sequences now demonstrated enhancement of the right lateral ventricular wall which was suggestive of ventriculitis (Figure ).\nShe underwent a stereotactic drainage of the lesion, which aspirated purulent material. The patient was continued on broad-spectrum antibiotics. Vancomycin was discontinued after 10 days. Cefepime was switched to ceftriaxone, which along with metronidazole, was continued for a total of six weeks. An extensive laboratory workup was done which did not reveal a potential source of infection or immunocompromised state. Due to the high suspicion for an abscess and the purulent aspirate, a bacterial DNA probe was carried out on the aspirate, which revealed the presence of Fusobacterium necrophorum. Since Fusobacterium necrophorum is the implicated organism in Lemierre's syndrome, a surveillance of signs were carried out on the patient but failed to reveal neck pain or thrombosis of the internal jugular vein (imaged with an ultrasound of the neck). On post-drainage day one, her mental status improved and she progressed to her baseline prior to her discharge from the hospital. |
A 23-year-old pregnant woman was referred to our institute with atypical chest pain, epigastric pain, and dysphagia. Her evaluation at the referring institution included a manometry study that showed diffuse esophageal spasm with a hypertensive LES and an esophagram that showed tertiary contractions with esophago-esophageal reflux and distal esophageal stricture. Evaluation for scleroderma and autoimmune disease was negative. Esophageal dilation was performed at the referring institution but did not resolve her symptoms. A trial of diltiazem was likewise unsuccessful. Imipramine and nitroglycerine had previously helped the patient somewhat, but her dysphagia continued to progress with further weight loss and a body mass index (BMI) of 17.5. The patient reported occasional alcohol use and had a remote social smoking history. The only medication that she used was cortisone cream, and she followed a self-restricted diet of soft foods.\nUpon presentation to our institute, the patient reported a continued weight loss of 1.3 kilograms over the preceding 5 weeks and her BMI was now 16.5. Her previous test results were reviewed and found to be consistent with type III achalasia (). The patient had previously been scheduled for endoscopy, but when she discovered she was 7 weeks pregnant, she ceased all medications and canceled her planned endoscopy upon the advice of her obstetrician. Without treatment, her dysphagia worsened and she lost more weight, dropping to a BMI of 15.6. Her Eckardt score was 6 (dysphagia: 3, pain: 1, and regurgitation: 2), and she was treated for dehydration in the emergency department twice. Because medical management had failed to resolve her symptoms, surgery (Heller myotomy) and local botulinum toxin A injection to the LES during the second trimester were considered. The patient, her obstetrician, and our team chose to proceed with esophagogastroduodenoscopy (EGD) and botulinum toxin A injection and balloon dilation of the LES as a temporizing maneuver to help the patient through to term.\nThe procedure was performed at approximately 14 weeks' gestation. We injected a total of 100 IU/mL of botulinum toxin A in 4 mL of normal saline or 25 IU per aliquot per quadrant. Each aliquot was injected circumferentially into the submucosa just proximal to the LES. Balloon dilation of the LES was performed with a 20 mm balloon. After the procedure, the patient reported significant relief from dysphagia, and her Eckardt score improved to 3 (dysphagia: 1, pain: 1, and regurgitation: 1). She gained approximately 4.5 kilograms and her BMI increased from 16.5 to 18.2, which she maintained throughout the duration of her pregnancy. She ultimately delivered a healthy baby girl at term, but her symptoms returned a few months postpartum. She underwent a second treatment of botulinum toxin A injection and balloon dilation at her request (using the same dosage and balloon size as at the initial procedure), but the treatment provided only one month of relief. A subsequent barium esophagram revealed partially treated achalasia, with significant delay in esophageal emptying and a tapered lower esophagus (“bird's beak” sign) (). Roughly eight months after delivery, the patient's Eckardt score returned to 6. She underwent a laparoscopic extended Heller myotomy and Dor fundoplication. The procedure was uneventful. The patient was able to resume a normal diet one week postoperatively, and she maintained her BMI of 18.2 postoperatively. Her baby has had no complications. |
A 19-year-old male basic military trainee reported chronic, intermittent bilateral hip and groin pain since childhood, which acutely worsened over the past two weeks related to increased physical training. He reported mild discomfort associated with long periods of walking which increased with running, left greater than right. Pain decreased but persisted at rest. The patient’s pain resulted in walking with a limp. Physical examination was notable for joint pain in both hips with active and passive motion, which worsened with weightbearing. The patient appeared younger than his stated age. Bilateral hip radiographs were obtained with frog leg views (Figure ). Findings were concerning for left SCFE, possible right SCFE, and abnormal delayed skeletal maturation without significant closure of the femoral physes or apophyses.\nThe radiologist recommended orthopedic referral and obtaining a bone age assessment to estimate the amount of delay in skeletal maturation. He was subsequently admitted by the orthopedic department for treatment with bilateral surgical pinning. Magnetic resonance imaging (MRI) of the bilateral hips was ordered prior to surgery, which further supported findings consistent with left SCFE (Figure ).\nSubsequent clinical follow-up initiated by his primary provider and the referred endocrinologist were notable for an elevated thyroid-stimulating hormone above 160 mcIU/mL, a low level of free thyroxine, and an elevated serum thyroperoxidase antibody level of 765 IU/mL, findings consistent with hypothyroidism likely secondary to Hashimoto thyroiditis. Further history obtained from the endocrinologist revealed symptoms consistent with hypothyroidism: fatigue, constipation, increased sleep, and problems with losing weight but without cold intolerance. A bone age study demonstrated a markedly delayed bone age, consistent with Greulich and Pyle male standard for 13 years and 6 months, incongruent with the patient’s chronologic age of 19 years and 2 months (Figure ).\nFollowing surgical pinning the patient was started on oral levothyroxine which was subsequently titrated as needed and demonstrated marked clinical improvement of his previous symptoms associated with hypothyroidism and with resolution of hip pain. Initial follow-up bone age studies demonstrated mild progression of physeal closure (not shown). |
A 35-year-old obese man presented to the emergency department (ED) with severe central abdominal pain with mild radiation to his back. He also had nausea and one episode of non-bilious, non-bloody vomiting. He denied fever or any change in his bowel habits. His review of systems was otherwise unremarkable. He denied any recent travel history, had not been exposed to any chemicals or exotic animals, and was in his usual state of health otherwise. He did not describe any infectious symptoms leading up to the presentation to the ED.\nHis past medical history was significant for hypertension, gout, type 2 diabetes mellitus, and dyslipidemia (elevated triglycerides, elevated total cholesterol, and high total cholesterol/HDL ratio). He was not on any medications, and these conditions were all managed through diet and lifestyle modifications under the supervision of his primary care provider (PCP). He had no surgical history. Although he reported being a heavy drinker in his early 20s, he had cut back significantly for many years and only had three drinks in the month prior to presentation. He had a 15 pack-year smoking history, but he transitioned to smokeless tobacco products and nicotine replacement products over the preceding 3 years. He occasionally ingested marijuana recreationally but did not smoke it. He denied any other substance or supplement use.\nOn further questioning, the patient reported having been on a 2000-calorie-a-day ketogenic diet for the past 3 weeks, with “cheat days” on the weekends when he ate whatever he wanted. He did not track the exact content of his diet on these cheat days, but he consumed far more carbohydrates relative to his diet days. After these cheat days, he would resume his ketogenic diet the following Mondays. The diet was designed by himself with advice from Internet sources, and he had a discussion with his PCP who had given him his approval. The patient reported having experienced identical but less severe symptoms on Mondays since starting his diet (as it was on the day of this presentation). The first Monday he experienced these symptoms, he had presented to a walk-in clinic but no definitive diagnosis was made. The second episode of pain occurred the following Monday, which was more severe and sustained. This led him to present to the ED.\nThe patient’s initial vital signs included a blood pressure of 155/101 mmHg, a heart rate of 77, a respiratory rate of 18, an oxygen saturation of 95% on room air, and he was afebrile. They remained similar and stable throughout the patient’s ED course.\nOn examination, the patient appeared well but in pain, rated as 10/10. He was not jaundiced, and his mucous membranes were moist. His cardiorespiratory examination was unremarkable. The patient’s abdomen was non-tympanic with normal bowel sounds and no skin discoloration. The patient was exquisitely tender in the epigastrium, but it was otherwise soft without peritoneal signs. He had neither right upper quadrant tenderness nor Murphy’s sign. Point-of-care (i.e., bedside) ultrasound showed no abdominal free fluid, no gallstones, and no other sonographic signs of cholecystitis.\nThe primary differential diagnosis considerations included hepatobiliary causes (such as biliary colic, choledocholithiasis, and acute cholecystitis), pancreatic causes (such as acute pancreatitis), and gastric causes (such as gastritis, gastric and duodenal ulcers) given the upper abdominal tenderness and vomiting. An atypical presentation of acute coronary syndrome was also considered, but was less likely given the history and physical examination findings. Similarly, thoracic and pulmonary diagnoses were entertained, but did not seem likely given the details of the case.\nThe patient’s point-of-care glucose testing was 9.3 mmol/L. His electrocardiogram showed normal sinus rhythm. The patient’s bloodwork on presentation to the ED is shown in Table . The only significant abnormalities were an extremely high lipase (2283 U/L), an elevated glucose (9.3 mmol/L), and an elevated white blood cell count (15.4 × 10^9 cells/L).\nA comprehensive ultrasound of the abdomen showed severe fatty infiltration of the liver, a normal gallbladder with no gallstones, non-dilated bile ducts, and patent portal and hepatic veins. The pancreas was incompletely visualized due to bowel gas and body habitus but it was described as ill-defined and heterogeneous, but without peripancreatic fluid or other ductal abnormality.\nGiven the patient’s characteristic signs and symptoms and a significantly elevated lipase, the diagnosis of acute pancreatitis was confirmed, and the patient was admitted to the general surgery service.\nOn the ward, the patient’s pain was controlled with opioids, and he received anti-emetics and intravenous fluids. Initially set at nil per os, his diet was slowly advanced until he was able to tolerate food without pain, and he was discharged home 2 days later. The patient’s lipase level was never measured again, but all other previously performed blood results were repeated and returned to the normal range within 24 h of admission.\nTable compares his lipid and metabolic profile from 3 weeks prior to the hospital admission (and prior to starting the ketogenic diet) to the values obtained on his presentation to ED. It is interesting to note that over the 3 weeks of the ketogenic diet, his metabolic profile generally improved despite the relative increase of calories derived from fat.\nThe patient continued to do well after his discharge from the hospital. He abandoned a strict ketogenic diet and reintroduced carbohydrates into his diet, while increasing his fruits and vegetable intake. He had not had any further episodes of acute pancreatitis 6 months after his index admission. |
We encountered a 69-year-old man who had localized right pleural metastases after undergoing nephrectomy in September 2017 for right RCC (8.0 × 7.0 × 7.0 cm), clinical stage 3, clear cell type histology, grade 2 (, A–2C). The tumor was histologically solid, with hemorrhage, necrosis, scarring, and pseudocapsule formation, and infiltrated into the renal parenchyma. The tumor spread to the right renal vein, but no infiltration into the inferior vena cava was observed. He didn't receive adjuvant chemotherapy following the nephrectomy. Postoperatively, he did not present with any symptoms and received regular follow-up with chest and abdominal computed tomography (CT) every three months. There were no confirmed recurrence and metastasis until March 2020, when he visited our hospital complaining of right chest pain and dyspnea. At this time, CT scan revealed right pleural effusion and multiple pleural masses (C and D). There were no abnormal radiologic findings in the other organs. He had no smoking history, no past medical history, and no asbestos exposure. We suspected the following possibilities: metastasis from RCC, malignant pleural mesothelioma, and synovial sarcoma. For investigation and diagnosis, we performed two pleural effusion tests before surgery, but both cytological results were class I. After one month, there were no new abnormal radiologic findings, but we confirmed that the tumors obviously grew on CT (E and F). Finally, we performed intrathoracic tumor resection under general anesthesia and diagnosed histologically as pleural metastasis from clear cell type RCC (D–F). Thoracoscopy showed multiple reddish, soft, bleeding encapsulated tumors (). The pleural fluid cytology had no malignant cells. A total of eight bleeding tumors were completely resected, with the largest measuring 5.0 × 3.8 × 2.2 cm. This case is currently being treated for pembrolizumab plus axitinib, which has been reported to be superior to sunitinib in overall survival and progression-free survival []. This was a very rare case of localized metastatic pleural tumors from RCC diagnosed by thoracoscopic surgical resection. |
A 69-year-old man developed a sudden epigastric pain. He was presented at this hospital as an emergency outpatient. Six years earlier, he underwent laryngoesophagopharyngectomy, bilateral lymph node dissection for hypopharyngeal cancer, and esophageal reconstruction with a free jejunum flap. On physical examination, the abdomen was flat and soft with tenderness in the epigastric region, but no sign of peritoneal irritation. Blood biochemistry findings revealed elevated values: creatinine, 1.16 mg/dl; lactate dehydrogenase, 364 U/l; and creatine phosphokinase, 622 U/l.\nAbdominal contrast computed tomography (CT) revealed twisted mesentery with the small intestine around the point of torsion (whirl sign) and the superior mesenteric artery as the axis. Contrast enhancement was weakened in the same area of the small bowel (Fig. ). Given this information, we suspected small bowel volvulus and performed emergency surgery on the same day.\nA 5-mm camera port was placed in the umbilicus and 5-mm ports in the lower and right lower abdomen. During laparoscopic examination, the upper jejunum adhered to the small bowel close to the terminal ileum with overlapping of the small bowel. The entire part from the upper jejunum to the terminal ileum was twisted clockwise with the superior mesenteric artery and vein as the axes and the adhesion site as the starting point. There were areas of poor color enhancement throughout the twisted section of the small bowel (Fig. ). We laparoscopically separated the adhesion between different sections of the intestinal tract and traced the bowel from the small bowel in the region of the ligament of Treitz toward the anus to confirm the absence of adhesions or torsion up to the terminal ileum. The color of the small bowel improved; hence, the surgery was completed without resecting any part of the intestine.\nPostoperatively, the patient made good postoperative recovery, resumed oral intake on day 2, and was discharged on day 5 after surgery. No recurrence has been reported 1 year postoperatively. |
A 68-year-old male with severe coronary disease was admitted to Onassis Cardiac Surgery Center for a routine coronary artery bypass graft (CABG) operation. A coronary angiogram revealed 80% stenosis of the left main coronary artery, 90% stenosis of the distal left anterior descending (LAD) artery, and 80% stenosis of the proximal circumflex artery. The patient’s medical history included type 2 diabetes mellitus.\nThe patient underwent off-pump total arterial revascularization with the use of skeletonized bilateral internal thoracic artery (BITA) grafts, which were used as in situ grafts for the left coronary system. We routinely harvest the right internal thoracic artery (RITA) conduit 1–2 cm distal to the bifurcation, in order to increase in situ conduit accessibility, particularly when retroaortic RITAs are used to graft marginal artery targets. For the left internal thoracic artery (LITA) conduit, we use the same technique when we intend to create sequential anastomoses to the diagonal or intermediate branches.\nThe LITA was grafted to the LAD and the RITA, through the transverse sinus, to the first obtuse marginal branch. During sternal closure, a transverse oblique fracture at the left fifth intercostal space was noticed. Standard figure-eight wiring was used for sternal closure (). A bilateral parasternal wiring technique, as described by Robicsek, was performed for sternal stabilization.\nThe patient had an uneventful recovery and was discharged on the sixth postoperative day. Twenty days later, he presented to the clinic for a routine follow-up. He complained of painless swelling at the lower end of the sternal incision, which was sporadically discharging a serous fluid secretion.\nClinical examination revealed instability of the lower third of the sternum, and a small sinus was identified at the bottom end of the incision. A routine laboratory workup yielded normal results. A chest computed tomography scan demonstrated lack of bone porosis in the lower part of the sternum, where the 2 sternal halves were approximated.\nSternal necrosis was suspected, and surgical exploration of the dehiscent part of the sternum was performed under general anesthesia. Intraoperatively, the sternum had a waxy, yellowish, avascular macroscopic appearance, and it was easily disturbed and detached from the adjacent ribs. The affected sternal bone was removed, as well as the figure-eight wiring. Meticulous debridement was performed, including the adjacent heads of each rib. The parasternal wires were retained to maintain the stability of the rib cage (). Bilateral pectoralis major muscular flaps were used to reconstruct the sternal defect [].\nThe patient’s postoperative course was uneventful. Histopathology showed bone necrosis with no polymorphonuclear leukocyte infiltration, a feature consistent with bone ischemia. Intraoperative cultures and swabs were negative for aerobic and anaerobic bacteria; therefore, the sterile necrosis of the lower sternum may have been the result of the bilateral Robicsek sutures strangulating the vascular supply. Five years later, the patient remained asymptomatic () and enjoyed a good quality of life. |
A 22-year-old man presented to his GP with an exacerbation of diarrhea during the past two months. He reported that he usually had diarrhea once or twice a week mostly on weekends and on daytime normally beginning as abdominal cramps that was relieved by defecation. During the past two months, he had been having an increased amount of watery-thin diarrhea 5-6 days a week. He now had symptoms also during the night and with no relation to food intake. In addition abdominal cramps were sustained during the days of diarrhea. He had not been outside Sweden recently. Blood work included liver function tests, creatinine, ions, anti- transglutaminase and gliadin antibodies, thyroid function tests, a full blood count, stool culture and microscopy for cysts and worms. They all came back negative. He was diagnosed with IBS and his GP prescribed inolaxol and loperamide.\nHe returned six months later with a history of one week of watery-thin diarrheas without mucus or blood. He also had abdominal cramps, nausea, and a fever of 38°C but no cardiopulmonary or mictuition problems. This time ESR was elevated as well as CRP and a blood count showed leucocytosis. He had not been traveling outside Sweden nor received antibiotics recently. Infectious enterocolitis was suspected and a stool culture was obtained.\nFour days later the stool culture came back negative, his symptoms were slightly better, and CRP had dropped significantly. His GP suspected noninfectious bowel disease and ordered a quick test for fecal calprotectin. When it showed >60 μg/g of feces he was referred for a colonoscopy.\nThe colonoscopy showed a normal colon up till mid transverse colon where erosions started to appear. These erosions increased distally up until the caecum (), where aphthous ulcerations upon a erythematic base was seen. In the distal ileum cobblestone pattern was seen together with multiple erosions (). The morphology suggested Crohns disease and multiple biopsies were taken and an MRI of the small bowel was scheduled; the patient was given Prednisolone which alleviated his symptoms.\nWhen the biopsy results came back four weeks later they showed no crypt abscesses and no granulomas. In ileum lymphoid hyperplasia with germinal centers was found as well as focal neutrophilic infiltrates (Figures and ). In caecum and ascending colon a few spots with cryptitis were found. The most remarkable finding was a female larvae of Enterobius vermicularis with numerous eggs lying in the intestinal lumen (). The patient was therefore given a single dose of Mebendazole with a second dose two weeks later. Three days after the first dose he still had an elevated fecal calprotectin and although he no longer had diarrhea he experienced nausea and vomiting. The MRI was normal and prednisolone was scaled out.\nA follow-up colonoscopy five months later revealed a macroscopically normal colon and distal ileum; biopsies were taken and they revealed lymphoid hyperplasia in the distal ileum and a normal caecum and colon. Fecal calprotectin was normalized during the following months and he remains symptom free. |
A 70-year-old male with a history of a lacunar stroke sustained a ground-level fall and was brought to the emergency department. His medications did not include antiplatelets or anticoagulants. Although he remained fully conscious after the fall and was neurologically intact, a brain computed tomography (CT) was performed due to his complaint of a headache. The brain computed tomography (CT) showed no specific findings at the level of basal cistern []. However, it showed a thin acute SDH of the right side with brain shift of < 5 mm [], and he was admitted to a neurosurgical ward for observation. There was no increase in the hematoma volume on the second CT performed 6 h after the initial CT. Conservative management was considered appropriate, and his headache subsided gradually. However, his headache recurred on the 7th hospital day, and on the 9th day, he became stuporous: he was E3V3M5 on the Glasgow Coma Scale. A brain CT revealed an isodensity SDH with a midline shift of >10 mm []. Impending transtentorial herniation due to increased SDH was thought to be responsible for the deterioration, and a small right-sided craniotomy to evacuate the hematoma was performed emergently. No brain swelling was observed intraoperatively. Despite the surgery, he failed to improve neurologically, and postoperative CT showed that there was no improvement in the brain shift []. Accumulation of intracranial air was also noted [, asterisk]. His consciousness level further deteriorated to E1V1M3 on the next day after surgery. Lack of neurological and radiographical improvement pointed to the presence of underlying IC. Review of the previous CT revealed a high density around the basal cistern, which had been overlooked [, arrowheads]. To prevent further deterioration, a volume of 40 mL saline was infused intrathecally through the spinal needle. The CSF pressure measured before saline infusion was 2 cm H2O, confirming the diagnosis of IC. His consciousness level improved to E4M4V6 immediately after the saline infusion. A CT myelography revealed the dural sleeve of the right L2 nerve root as the source of CSF leakage [Figure and ]. An epidural blood patch therapy was performed on the 12th hospital day to seal the CSF leakage: a volume of 40 mL autologous blood was administered through an 18-G Tuohy needle inserted from the L3–L4 level. The postprocedural course was uneventful: he became fully conscious 2 days after the blood patch therapy and was discharged free of symptoms on the 20th hospital day. A brain CT performed 1 month after discharge showed a reversal of brain shift []. He has not sustained recurrence of SDH for 6 months. Written consent from the patient to be enrolled and to have his data published was obtained. Publication of this case report was also approved by the Institutional Ethics Committee. |
A 64-year-old man suddenly experienced articulation disorder and right leg paralysis immediately after exercise and was transported to our hospital by ambulance. He had a history of hypertension and was receiving oral combination antiplatelet therapy (100 mg aspirin and 75 mg clopidogrel) due to recent coronary stenting for angina.\nOn arrival, his blood pressure was 223/103 mm Hg. Neurologically, he was alert (Glasgow Coma Scale, E4V5M6) without ocular deviation or anisocoria. He presented mild dysarthria, right leg paralysis corresponding to Manual Muscle Test 4, and increased deep tendon reflex in all limbs (without laterality). No pathological reflexes were elicited and no sensory or coordination abnormalities were observed. His National Institutes of Health Stroke Scale score was 1.\nPlain head computed tomography (CT) performed immediately after arrival showed an approximately 1.5 mL oval hemorrhage in the dorsomedial pons (Fig. ). Thin slice imaging of the brainstem using plain head magnetic resonance imaging revealed hematoma in the dorsal lower pons and surrounding edematous changes (Fig. ). On laboratory testing, platelet counts and coagulation profile were normal while serum anti-neutrophil cytoplasmic antibodies were negative. Head magnetic resonance angiography demonstrated no aneurysm in the major intracranial arteries; however, microbleeds were observed in the bilateral basal ganglia on fast field echo and hypertensive pontine hemorrhage was diagnosed.\nAntihypertensive therapy was immediately initiated and he was admitted to the Stroke Care Unit; however, around this time, he suddenly developed bilateral hearing loss and left tinnitus. He had difficulty hearing even when his ears were being directly shouted at. He was able to speak and communicate in writing and presented no aphasia. Otolaryngological examination found no abnormalities in the bilateral external auditory canal or tympanic membrane. On auditory brainstem response (ABR) testing on hospital day 16, poorly defined wave V was shown bilaterally indicating injury in the lower and central pons (Table and Fig. ). Antihypertensive therapy was continued and no exacerbations of hematoma or edema were observed on follow-up plain head CT. From around hospital day 20, bilateral hearing suddenly began to improve without intervention; however, a hearing test performed on hospital day 20, showed that bilateral hearing ability remained impaired at approximately 20 dB. The left tinnitus also improved and recovered to a level where it did not impede everyday conversation. He was transferred to a rehabilitation hospital on hospital day 26 due to residual dysarthria and right leg paralysis. |
The 67-year-old female patient of the present study had previously been diagnosed with transitional cell cancer of the urothelium (non-invasive, pT1N0M0), which had been treated with total cystectomy, ileal conduit diversion and urostomy at the age of 63. The patient had smoked 10 cigarettes a day between the ages of 30 and 60 and had then quit. The patient had no documented hypertension or diabetes mellitus. Subsequent to the finding of an abnormal shadow in the right upper lung, based on X-rays taken during the follow-up post-operative testing in April 2012, the patient visited the Department of Respiratory and Infection Control (Tokai University Hachioji Hospital, Tokyo, Japan) for a detailed examination. No such shadow had been detected in the lung during testing the previous year.\nThe patient’s blood pressure was 156/93, the heart rate was 79 bpm and regular, percutaneous oxygen saturation was 95% (room air) and there were no cardiopulmonary symptoms such as coughs and sputum. The patient had previously undergone a urostomy in the right lower abdomen. The blood tests, including those for tumor markers, were normal except for a slightly elevated white blood cell count. The aspergillus antigen and antibody were not present, and the β-D glucan level was also normal. The sputum culture detected no fungus or mycobacterial colonies throughout an 8-week incubation period. The chest CT showed a cavitary lesion that was 3.5 cm in diameter, with fungus ball-like shadows and air crescent signs next to the pleura in the right upper lung (). No nodular density was noted in the other lung fields. No pleural effusion or enlargement of the mediastinal lymph node was found. Based on the clinical and imaging findings, the patient was temporarily diagnosed with aspergilloma with a cavitary lesion and fungus ball-like shadows in the right upper lung.\nThe primary treatment of aspergilloma is surgical removal, and the differentiation of a lung cancer is also required, therefore, video-assisted thoracic surgery was performed in May 2012, rather than a bronchoscopy, on the basis of the patient’s approval. The lesion was histopathologically identified as lung metastasis of transitional cell cancer of the urothelium (). The histopathology confirmed that the tissues extended to the internal cavity wall and inner cavity, and that they were transitional cell cancer of the urothelium (). The center of the fungus ball-like structure consisted of tumor stromal tissue covered with urothelial transitional cell cancer, not lung interstitial tissue (). Mycetes, including Aspergillus sp., were not detected in the isolated tissue. |
A 2-year-old boy with prenatal diagnosis of a malformation uropathy was referred to paediatric surgery department. On systemic examination, there were no palpable masses. An ultrasonography of abdomen and color Doppler were performed and they showed a vascular mass of the left renal helium measuring 25 mm × 21 mm with a vascular flow in the renal artery which pushed down the renal vein. These two diagnoses proposed a renal artery aneurysm and an arteriovenous malformation. An angiography of the renal arteries revealed at the left renal artery, a true preostial aneurysm measuring 7 mm × 12 mm. On renal scintigraphy, the left kidney had an altered function (glomerular renal function at 29%) with normal drain and the right kidney showed a good capture function (glomerular renal function at 71%). An endovascular treatment was attempted but it failed. Likewise, no vascular bypass gesture was possible; the patient had a left nephrectomy. Grossly, the specimen measured 75 mm × 50 mm × 20 mm with renal artery aneurysm measuring 30 mm × 35 mm. On cut section, the renal parenchyma contained a whitish area that measured 35 mm × 10 mm. Histological examination showed an unencapsulated tumor infiltrating the renal parenchyma and involving focally the renal sinus. It consisted of a proliferation of spindle cells with scanty cytoplasm and no nuclear atypia nor mitosis. Hypocellular myxoid areas were seen around blood vessels and tubules, forming concentric “onion skin” rings. Some intratumoral arterioles had myxoid changes of medial smooth muscle, characterizing angiodysplasia []. The glomeruli showed juxtaglomerular hyperplasia []. The wall of the aneurysm showed fibrosis with dystrophic calcifications. There were no nephrogenic rests. Immunohistochemically, tumor cells were diffusely immunoreactive for CD34, and there is no immunostaining with PS100, desmin, and cytokeratin []. This tumor was diagnosed as MST. There was no local recurrence after a following up of 4 months. |
KIE was a nine-year-old female foreigner first seen by our centre at the age of 2 years for delayed speech and language development. There was an antenatal history of maternal rubella infection in the first trimester. Clinical examination of the external ear canals and tympanic membranes, then, was unremarkable. She was diagnosed with bilateral sensorineural hearing loss at a profound level for which cochlear implantation was recommended. She had right cochlear implant surgery (Advanced Bionics HiRes 90K HiFocus 1J) performed at another centre when she was 2.5 years of age. After surgery, she returned to our centre for regular audiological and auditory-verbal therapy follow-ups. As she continued medical follow-up with a local otolaryngologist from her hometown overseas, we did not possess records of her medical condition including the status of her eardrums.\nAudiologically, she was doing fine until at 3 years after implantation when she started to experience nonauditory stimulation during mapping. Whenever electrode 16 (the most proximal electrode) was stimulated, she would experience throat irritation and coughing episodes. At a subsequent review 6 months later, the nonauditory symptoms resolved, but she lost her auditory perception at electrode 16 (even at elevated M-levels of more than 400CU). Six months later, she reported pain and discomfort upon stimulation of electrodes 15 and 16. At 5 years after implantation, her score on a speech test was 80% without lip reading.\nAt 6 years after implantation, she returned for an urgent medical consult. She gave the history of suddenly experiencing severe pain and complete loss of hearing during an aural toilet procedure in the clinic the day before. Prior to that, she had been experiencing recurrent itch and discharge from the right ear for a few months but was still able to hear with the implant.\nOn examination, the tip of the electrode array could be seen in the external ear canal (EAC) (Supplementary Fig.). The eardrum appeared to be perforated with the presence of cholesteatoma debris in the middle ear and EAC. Taken together, the clinical impression, then, was that inadvertent explantation had taken place during the aural toilet procedure. The electrode array was probably exposed in the EAC secondary to the development of cholesteatoma as a complication of cochlear implantation. Indeed, X-ray and CT scan performed on the same day confirmed that explantation had taken place with the electrode array lying in the EAC (Figures and ).\nThe family was counseled accordingly. It was recommended that the cholesteatoma be eradicated and that a new device be reimplanted. Although these could be performed in 1 stage, the possibility of a 2-stage procedure was discussed. Radical mastoidectomy with overclosure of the EAC, as well as the pros and cons of mastoid cavity obliteration with abdominal fat, was also discussed. The possibility of failure to reinsert the replacement electrode array and the option of a second side cochlear implant on the opposite (left) ear were highlighted. The parents expressed preference for the avoidance of an additional abdominal wound for fat grafting and opted for a second side implant.\nReimplantation surgery was carried out 2 days later. Intraoperatively, cholesteatoma was seen in the middle ear. Embedding the electrode array, diseased tissue extended into the mastoid cavity through posterior tympanotomy (Figures and ). Histology of a sample of this tissue confirmed cholesteatoma with lamellar keratinaceous debris, strips of stratified squamous and fibrotic stroma with inflammation, and dystrophic calcification. With a canal wall down mastoidectomy, complete clearance of gross disease could be achieved. Soft tissue had formed around the cochleostomy site resulting in obstruction of the cochleostomy opening. Fortunately, following its removal with a pair of microscissors, the cochleostomy opening could be restored which permitted successful reinsertion with the same implant model.\nA blind sac was created by overclosure of EAC. The EAC skin was noted to be thinned and friable, and the nearby soft tissue observed to be scarred from the previous cochlear implant surgery. As planned, the surgery was completed without further mastoid cavity obliteration.\nThe second side cochlear implantation (Advanced Bionics HiRes 90K HiFocus Midscala) was carried out in the left ear without any problems.\nThe blind sac was initially intact but started to breakdown about 3 weeks postsurgery. As it did not heal with medical treatment, she underwent reparative surgery with abdominal fat grafting 1 month later. The blind sac was healthy since and had remained so at least 2 years after surgery.\nThe right implant was activated 2 weeks after reimplantation and the left implant 3 months after that. All the electrodes could be activated with mapping parameters on both sides falling within normal limits. The adaptation to progressive maps of increasing loudness was well tolerated with no further nonauditory stimulation. At 1 year after surgery, she achieved a 100% speech test score on her reimplanted side and 63% on the opposite side. Aided hearing thresholds of 20 dB from 250 Hz to 8000 Hz were attained on both sides. With her new implants, she experienced increased awareness of very soft sounds and was doing well in mainstream school. She had also been swimming regularly without any problems. |
A 20-year-old, right-handed woman complaining of severe pain in the right shoulder was admitted to our hospital following a traffic accident. Physical examination revealed pain, swelling, tenderness, limb weakness, asymmetric posturing, and loss of function in the right shoulder.\nRadiographic evaluation in the emergency room showed complete destruction with a comminuted fracture of the lateral half of the right clavicle and a comminuted fracture of the coracoid. A computed tomography (CT) scan revealed the scope of the lesion and was essential in identifying the small bone fragments separated from the fracture ().\nA preoperative assessment was performed for pain using the visual analog scale (VAS) score with a result of 9. The preoperative disabilities of the arm, shoulder, and hand (DASH) score () was 98.3. A higher score means greater disability, with 100 points indicating a complete disability of the extremity and 0 points indicating a perfect extremity.\nThe patient was informed that data concerning her status would be submitted for publication and the patient agreed and signed the form providing written informed consent to participate in the study. The study was registered on (NCT03577678).\nA normal clavicle three-dimensional (3D) geometry model was designed using data extracted from the CT scan. The 3D model of the clavicle was developed using the digital imaging and communication in medicine format, and image segmentation was performed using the Mimics software (Materialize NV) (). The size of the prosthesis corresponded to that of the lost portion of the clavicle,\nThe Prosthesis was manufactured by using 3D printer selective laser melting. The material used was Ti-6Al-4V alloy powder. The prosthesis Size of pores were 900 microns air and 100 microns solid, and the Volume of pores to the e whole implant was 60% while Weight of pores to whole implant body is 38%. The prosthesis was structured from mesh and 2 holes on the medial part of both sides to reduce the modulus. The surface of the prosthesis was polished without any coating (). We created three designs to reach the best one which simulate bony part of clavicle.\nAfter completion, the 3D computer models and the designed model were imported into the ANSYS Workbench 15.0 (ANSYS Inc., Canonsburg, PA, USA) for finite element analysis. The stress distribution and deformation were calculated using the ANSYS Workbench. The boundary conditions applied are two fixed points at the ends of the implant on the lateral side and medial side. Thereafter, the effect of dynamic load location on the clavicle is applied with tension loads in two directions of the later side and medial side with an amount assumed to be 150 N to simulate the real case. The maximum stress was tested. The maximum stress was present at the middle third of the clavicle length, which is a characteristic of clavicle fractures in real life. While the maximum elongation was 50 microns and 75 microns in the lateral and medial sides, respectively. Thus, a comparison of the stresses predicted and the load location by finite element analysis suggested that the results could be in the same range ().\nWe validated the results of FEA to check the results given by FEA software. This was done by comparison with experimental data, and comparison with other similar computation techniques.\nThe patient underwent the operation in the supine position. The operative site was sterilized from the lateral border of the acromion to the sternum, and then a horizontal skin incision was made on the superior surface of the clavicle. The skin, platysma, and subcutaneous tissue were raised, with care taken to avoid injury to the supraclavicular nerves. The fracture site was exposed and inspected; thereafter, the small fragments and sharp fracture ends were removed.\nThe prosthesis was fixed with the remaining normal portion of the clavicle using a press fit, and the entire prosthesis was filled with a synthetic bone substitute (). The prosthesis was implanted and fixed to the acromion with non-absorbable sutures through small holes on the surface of the prosthesis. Thereafter, the wound was closed. The operating time was 1.5 h, the blood loss was 1 L, and there were no intra-operative complications.\nThe arm was maintained in a sling throughout the day for 2 weeks. Thereafter, active assisted ROM exercises of the shoulder at the scapular plane were initiated. Full active motion was started at 4 weeks, and strengthening and resistive exercises of the shoulder girdle were started at 6 weeks up to 12 weeks. The progress of the exercises was dependent on the tolerance of the patient. By 6 months, the patient resumed her normal activities of daily living.\nThe VAS score for pain was 2, while the DASH score was 28, after 2 years post operation. The CT scan 6 months after the operation () revealed a good position for the prosthesis and no evidence of a stress fracture. Active ROM results of the shoulder at 1-year follow-up were flexion 125°, abduction 110°, external rotation 50°, and internal rotation 70°.\nA radiographic examination at 2-year follow-up () revealed a good position of the prosthesis and no bony changes found. Muscle strengths compared with the uninjured shoulder at 2-year follow-up were maximum flexion strength 73%, maximum abduction strength 71%, maximum external rotation strength 65%, and maximum internal rotation strength 77%. Our patient was able to perform her activities of daily living but was not able to participate in sports activities that required a wider shoulder ROM, such as throwing. |
We report the case of a 69-year-old male with a past medical history of hypertension, coronary artery disease, ischemic cardiomyopathy, noninsulin dependent type 2 diabetes mellitus, and alcohol dependence who presented to our institution in cardiac arrest and underwent emergent cardiac catheterization. During admission, laboratory results were notable for anemia with a hemoglobin of 4.6 g/dL, compared to a baseline hemoglobin of 14.2 g/dL approximately four years prior, with mean corpuscular volume of 65 fL. Further workup revealed iron levels of less than 10 μg/dL and ferritin of 3.3 ng/mL, confirming a diagnosis of iron deficiency anemia. CT of the chest, abdomen, and pelvis with intravenous contrast was performed to evaluate for occult malignancy.\nWhile chest CT did not show any findings of intrathoracic malignancy, abdomen and pelvis CT showed a 2.4 × 3.2 cm soft tissue mass at the tip of the appendix () as well as a 5.3 × 2.5 cm lobular perirectal mass () which were concerning for a malignancy. There were also borderline enlarged perirectal and pelvic lymph nodes. MRI of the pelvis was also performed again demonstrating an infiltrative rectal soft tissue mass which was nonspecific ().\nA colonoscopy was performed with a normal appearing appendiceal orifice and normal rectal mucosa without any masses identified. The patient also underwent a flexible sigmoidoscopy with endoscopic ultrasound evaluation of the rectum. No rectal mass was seen on endoscopic ultrasound, and only small, benign appearing perirectal lymph nodes were identified and therefore, no biopsies were obtained.\nCarcinoid tumor was in the differential in addition to malignancy. However, serologic studies showed normal gastrin (39 pg/mL), chromogranin A (2 nmol/L), and serotonin (86 ng/mL) levels. Given the presence of concurrent appendiceal and rectal masses, tissue sampling was further pursued for treatment planning. Three 18-gauge () core needle biopsies of the appendiceal mass were obtained and submitted to the pathology department for evaluation. We believe this is the first reported case of a CT-guided core needle biopsy of an extranodal gastrointestinal RDD.\nHistologic sections showed a heterogeneous lesion composed predominantly of histiocytes with numerous scattered plasma cells and lymphocytes (). Many of the histiocytes showed enlarged nuclei with prominent red nucleoli. Several foci of emperipolesis were also identified (). The accompanying plasma cells were predominantly scattered but focally aggregated. No atypical plasma cells were seen. A broad differential was considered and immunohistochemistry (IHC) performed to evaluate for RDD and IgG4-related sclerosing disease, as well as to rule out carcinoma, inflammatory myofibroblastic tumor, and Mycobacterium or fungal infection. The histiocytes with large nuclei and prominent nucleoli were positive for S-100 () and CD68 IHC () with CD68 also highlighting large areas of histiocytes. IgG4 IHC staining showed significantly increased positive cells (approximately 53 IgG4-positive cells) in a single 400x field () in a background of predominantly scattered and focally aggregated positive cells. Overall, the diagnostic workup was most consistent with RDD, without evidence of carcinoma. Given the focally increased IgG4 staining, a component of IgG4-related sclerosing disease could not be entirely ruled out, with possible overlap between the two entities entertained by the pathologist.\nThe patient was discharged in stable condition and with an outpatient referral to an oncologist and a histiocytosis specialist at an outside institution. We were unable to obtain further workup or treatment. |
A 40-year-old male patient was brought to R. L. Jalappa Hospital & Research Centre affiliated to Sri Devaraj Urs Medical College, Kolar, Karnataka, South India. The patient presented with an alleged history of road traffic accident, sustaining an open injury to his right foot. It involved the bipolar dislocation of the proximal phalanx of the third toe with extensor digitorum longus tendon injury and fracture of the neck of the fourth proximal phalanx of the right foot. Range of motion of the metatarsophalangeal joint of the third and fourth digits was painful and restricted. Active first, second, and fifth toe movements were present. No distal neurovascular deficits were noted. All other bones and joints were clinically normal. It was an isolated injury with no evidence of intracranial, thoracic, abdominal, or pelvic injury on clinical or radiographic examination. A focused assessment with sonography in trauma showed no signs of hemorrhage.\nOn arrival, tetanus prophylaxis was administered to the patient. Triple antibiotic prophylaxis consisting of amoxicillin-potassium clavulanate 1.2 g, amikacin sulfate 500 mg, and metronidazole 100 mL were administered in the emergency department. A brief bedside irrigation with 6 L of sterile saline was given, and the wound site was dressed with moist gauze. The patient was then provisionally stabilized with a short leg splint and sent for preoperative imaging. Clinical image and preoperative radiographs are provided in Figures , , respectively. After imaging was completed, a trial closed manipulation failed as expected, as shown in Figure . The patient was operated under spinal anesthesia. Three liters of sterile saline was then used to irrigate the wound. Gross wound contaminants were removed. The patient underwent wound debridement with extensor digitorum longus tendon repair of the fourth digit, and internal fixation with K-wire fixation for the third and fourth digit was performed. Post-operative image is shown in Figure . The post-operative period went uneventful. The superficial and deep wound infection never occurred at any point of time. This included physical signs (erythema, malodor, gross purulence, etc.) and hematological signs (rising of white blood cell count, erythrocyte sedimentation rate, C-reactive protein etc.). Post-operatively, the patient stayed in the hospital for seven days for wound monitoring. Daily physical and occupational therapy was routinely performed by the patient. The surgical site healed well. Active toe movements of the first to fifth digits were present.\nHospital course\nPost-operatively, the patient received intravenous amoxicillin-potassium clavulanate 1.2 g twice daily for seven days, amikacin sulfate 500 mg twice daily for five days, and metronidazole 100 ml thrice daily for three days followed by oral amoxicillin-potassium clavulanate 625 mg twice daily for seven days. Analgesics and anti-edema measures were given. Protein-rich supplements along with personal hygiene measures were provided. A below-knee slab and strict non-weight bearing ambulation for six weeks were recommended. The K-wires were removed after six weeks, and partial weight-bearing was started with the help of a walker. Full weight-bearing was permitted after six months. The patient was being followed up at regular intervals. The patient returned to his work with no limitations on the activity or complications after his final follow-up. |
A 14-year-old previously healthy girl presented 2 weeks after an uncomplicated laparoscopic appendectomy for non-perforated acute appendicitis in a regional hospital. The girl complained of gradually reducing urinary frequency to twice per day and prolonged hesitancy. The micturition stream was initially weak and slow before becoming interrupted. Straining did not produce stronger urinary stream. She had never suffered from urinary tract infections (UTIs) or constipation and opened her bowels daily.\nFollowing an episode of acute cystitis 2 months later, she completely lost her ability to void. She was put on indwelling Foley urinary catheter, and her cystitis was successfully treated with antibiotics. After every attempt to remove the urinary catheter, she had to be catheterized again with 300 to 1200 mL of urine volume registered. She noted loss of urge to urinate and felt only dull pain in suprapubic region and right iliac fossa on extreme bladder distention. The girl was kept on indwelling urethral urinary catheter and referred to a tertiary center to determine the etiology of her urinary retention.\nShe was examined with normal clinical findings and no obvious pathology on abdominal and pelvic ultrasound scan (USS). A pediatric neurologist found nothing abnormal, and magnetic resonance imaging (MRI) of the brain and spine, electromyography (EMG) of the lower extremity, somatosensory-evoked potentials (SEP) of tibial nerve, electroencephalogram (EEG), and lumbar puncture were with no pathology. On USS, the gynecologist described multiple follicular cysts on ovaries bilaterally and found no pathology explaining her urinary retention.\nOur pediatric urologist performed an examination under general anesthesia including a free calibration of the urethra up to 26F followed by normal findings on cystoscopy. Videourodynamic study (VUDS) showed an asensitive and hypotonic bladder. The bladder filling had to be stopped at 360 mL due to the patient's discomfort. Maximum intravesical pressure achieved 11 cmH\n2\nO. When pulling the urodynamic catheter out of the bladder manually, the maximum urethral pressure measured was 120 cmH\n2\nO. On vesicocystourethrogram (VCUG), there was no vesicoureteral reflux, a smooth bladder wall and closed bladder neck (\n).\nPsychologic and psychiatric evaluation identified no major problem. During the following 2 years of repeated admissions to several regional and university hospitals, many of the tests described above were repeated, including an MRI of brain and spine with identical conclusions.\nClean intermittent catheterization (CIC) was recommended to the patient. However, because of poor tolerance of CIC due to frequent macroscopic hematuria and pain, a suprapubic catheter was placed. Thereafter, she suffered recurrent symptomatic afebrile UTIs caused by multi-resistant bacterial strains, e.g.,\nKlebsiella\n,\nPseudomonas\n, or\nEscherichia\n. Finally, after 2 years, based on the history, symptoms, and urodynamic findings, she was diagnosed with Fowler's syndrome (FS).\nFor the treatment of FS, the patient was indicated for S3 neurostimulation. The implantation of two Medtronic S3 neurostimulators, type Interstim II, bilaterally in the upper gluteal region was performed under general anesthesia in two phases. The first phase was a transcutaneous implantation of the electrodes into S3 foramina and their connection to externalized neurostimulators. The first procedure took 30 minutes. As the patient restored her voiding completely back to normal when switching on the neurostimulators and experienced no side effects, she could undergo the second phase 4 weeks later—permanent subcutaneous implantation of the neurostimulators (\n). The second procedure took 15 minutes under general anesthesia.\nWith a transcutaneous remote control, she was able to modify the intensity of stimulating current to avoid any discomfort (\n). On the last follow-up, 4 months after the implantation, she voided four to six times per day with post-void residuals up to 50 mL on USS. Unfortunately, she suffered two prolonged episodes of burning on micturition even after the operation. On both occasions, she was diagnosed with acute cystitis by\nE. coli\n107 that was treated with antibiotics after sensitivity testing. |
A 42-year-old Mediterranean male presented complaining of inability to sustain good oral care at the posterior aspect of the lower right jaw. The main problems were food impaction in the area and the subsequent malodor. The patient reported remarkable medical history, and he was a non-smoker. Clinical examination revealed local erytherma with noticeable bony defect distal to the second molar with obvious defect in the mesial wall of the third molar; the penetration depth was found to be up to 6 mm (Figure ).\nRadiological evaluation confirmed the defect and it was attributed to the mesioangularly impacted lower third molar; there was marked dilation or thickening of the lamina dura secondary to the local inflammatory reaction. It was decided that the third molar should be extracted and concentrate of the patient's growth factors (PRGF) to be implanted into the bony defect to stimulate bone regeneration and promote healing(Figure ).\nPreoperatively, 24 cc of the patient's blood (venous blood from a peripheral vessel) was obtained using a butterfly cannula. The blood was collected in five sterile glass tubes, pretreated with 3,8% trisodium citrate (anticoagulant factor) and then centrifuged at 460 g for 8 mins at room temperature (PRGF System, BTI Biotechnology Institute, Vitoria, Spain) []. After centrifugation, blood was separated into distinct layers, with the cellular fraction located at the bottom of the tubes and the plasmatic fraction located just above the red blood cell line. Plasma volume constituted 1 cc and was located just above the red blood cell line. This fraction appears to be very rich in growth factors []. A volume of approximately 5 cc of PRGF was collected in a tube and 50 μl of 10% calcium chloride (CaCl2) were added per 1 cc of PRGF []. CaCl2 activates PRGF and stimulates the formation of a semi-solid, scaffold-like mass which functions as a matrix for progenitor cells and maintains the regenerative area of the defect []. After activation, PRGF was mounted on a spatula and ready to be applied to the bony defect (Figure ).\nThe surgical part of this case study took place under local anesthesia. A transginigival incision was made after tissue infiltration with local anesthesia. A buccal mucoperiosteal flap was raised and bone was exposed. The third molar was elevated and removed, followed by debridement and curettage of all debris and granulation tissue in the area. Subsequently, the 'scaffold-like', CaCl2 activated PRGF was implanted in the bony defect. The volume of PRGF was adequate to provide full cover of the whole defect. The flap was carefully repositioned and sutured with horizontal mattress sutures. An immediate postoperative dental panoramic tomography was obtained and considered as the "baseline image" for this case study (Figure ). The patient was given full postoperative instructions, including contact details if postoperative complications to occur. Also, anti-inflammatory and antimicrobial cover was provided for 5 days.\nAt the first postoperative day, moderate pain was the main complaint and was controlled by NSAIDs. After two days, the pain subsided. No postoperative swelling was reported by the patient. There were neither symptoms nor clinical suspicion that would suggest alveolar osteitis (dry socket), indicating normal clotting and coagulation [,]. One week postoperatively, the sutures were removed and there was good tissue healing on examination.\nOn the fiftieth postoperative day, and according to the PRGF clinical protocol, radiographic evaluation took place and showed noticeable enhancement of density and radio-opacity in the third molar socket area, in comparison with the baseline image (Figure and Figure ). Further clinical examination showed significant reduction of periodontal pocketing by 3 mm and evidence of new bone formation. |
A 27-year-old Brazilian–Amazonian man presented to the Surgery and Oral Pathology Service of the João de Barros Barreto University Hospital, Federal University of Pará, Belém, Pará, Brazil, with a complaint of a painful swelling in the right ramus of the mandible that had been presented for approximately 1 month. The medical history for the patient revealed no relevant contributory conditions. The clinical examination revealed facial asymmetry evidenced by an enlargement in the right posterior region of the mandible, and the patient also reported fatigue and weight loss. Intraorally, a discrete swelling in the buccal mucosa extended to the retromolar space []. The panoramic radiograph revealed a multilocular ill-defined radiolucent lesion on the right side, expanding to the body, angle and ramus of the mandible []. The computed tomography scan evidenced a hypodense area causing destruction of the vestibular and lingual bone cortical areas. Such area involved the body, angle and ramus of the mandible []. The lesion's aspiration was negative. An incisional biopsy was performed under local anesthesia, and a tissue sample was removed from the interception zone of the ramus and body of the mandible. Results of microscopic analysis revealed fragments of malignancy presenting as compact sheets of atypical diffuse infiltrate of plasma cells. The neoplastic plasma cells presented as varied in size with eccentric nuclei, rounded and irregular formats. In some neoplastic cells, the nuclear chromatin presented as vesicle-patterned or delicate beads as well as prominent nucleoli [Figure and ]. The immunohistochemical reactions were positive for CD138 [], plasma cell [], monoclonal to kappa [] and high Ki 67 immunostaining [] and were negative for leukocyte common antigen, desmin and citoqueratin. It was necessary to assess the possibility of involvement of other bones. The bone scintigraphy showed a mild radiopharmaceutical hyperconcentration in the left seventh and tenth ribs as well as in the knees and heels. In addition, a moderate hyperconcentration in the shoulders was noted []. Thus, the diagnosis of MM was made, and the patient was referred to hematology and oncology department for treatment but eventually died 1 month after the diagnosis from pulmonary failure complications. |
We present a case of a 60-year-old Kenyan woman who was admitted 1 year ago to a hospital in western Kenya with complaints of epistaxis and right-sided chest pain for the preceding 3 days. She reported an 11-year history of recurrent spontaneous epistaxis that had worsened 3 days before admission. Apart from one episode of postpartum hemorrhage (PPH) in the past that had required blood transfusion, she had no other history of bleeding tendencies. Her right-sided chest pain was pricking in nature and radiated to her upper back. She had associated shortness of breath but no cough or platypnea. She also complained of severe headache that she described as global, persistent, and not worsened by light but associated with dizziness. She had never been on any medications for the epistaxis.\nShe had two previous admissions: one 17 years ago for PPH that required blood transfusion and another in early childhood for malaria. She is a widow, mother of five children, and a first-born in a family of seven. Two of her sisters had histories of mild recurrent epistaxis. She had a history of occasional alcohol use but had stopped 4 years before admission. She had no history of tobacco use.\nHer physical examination revealed a middle-aged woman in fair general condition with severe pallor and a tinge of jaundice. She had no cyanosis or lymphadenopathy. Her vital signs were blood pressure of 95/60 mmHg, pulse rate of 100 beats/minute, respiratory rate of 22 breaths/minute, and axillary temperature of 37 °C. Her oxygen saturation by pulse oximetry was 95 % on room air, which dropped to 92 % 5 minutes after changing positions from supine to upright.\nHer oral examination revealed multiple, guttate-like, erythematous blanching lesions with a tendency to coalesce on the edges of the tongue, as well as a few grouped erythematous, well-demarcated, blanching lesions on the hard palate (Fig. ).\nHer cardiovascular examination was notable for mild tachycardia, a bounding pulse, and a hemic murmur. She had hepatomegaly of 7 cm below the costal margin with a liver span of 17 cm and a bruit on auscultation. The rest of her systemic examination was unremarkable.\nHer laboratory investigations revealed normal activated partial thromboplastin time, prothrombin time, international normalized ratio, and bleeding time. Her complete blood count showed hemoglobin of 4.1 g/dl, mean corpuscular volume of 60.6 fl, a normal white blood cell count, and slight thrombocytosis of 471 × 103/μl. Her peripheral blood smear showed a decreased red blood cell count with moderate microcytosis and marked hypochromasia, suggestive of iron deficiency anemia. She had slightly elevated alkaline phosphatase and total bilirubin levels. A chest radiograph demonstrated opacity in the right midzone, and a transthoracic contrast echocardiography (TTCE) with agitated saline confirmed the presence of a right-to-left shunt (Additional file 1: Video 1). Considering either a large atrium-level or pulmonary shunt, we then performed contrast-enhanced chest computed tomography (CT), which revealed a large pulmonary arteriovenous malformation (AVM) and multiple hepatic AVMs (Fig. ).\nAt presentation, we considered inherited coagulopathies such as von Willebrand disease, given the histories of her two siblings, chronic liver disease, and platelets disorders as possible causes of epistaxis. These were ruled out by normal coagulation studies and bleeding time, however.\nThe diagnosis of HHT is based on the international consensus diagnostic criteria (the Curacao diagnostic criteria), which use clinical findings of epistaxis, mucocutaneous telangiectasias, visceral vascular malformation, and positive family history (Table ) []. Our patient was diagnosed with definite HHT, as she fulfilled three criteria. Although she had reported that two her siblings had histories of mild epistaxis, this criterion was not considered in this case, as the siblings’ diagnoses were not confirmed to be HHT.\nDiagnosis of this rare disease is a challenge in resource-limited settings due to its variability in presentation and lack of clear diagnostic modalities. As shown in our patient, late diagnosis is due to many factors, including low clinical suspicion among clinicians, difficulties in accessing health care by the patient, and economic costs associated with further imaging. The costs of these investigations were waived for our patient.\nThe patient’s epistaxis was controlled by repeated nasal packing. She also received 1 g of tranexamic acid intramuscularly, which was continued orally at 500 mg three times per day for 5 days. Her epistaxis stopped 5 days after admission. She also received a transfusion of 6 U of whole blood and was put on oral ferrous sulfate 325 mg three times daily. Her repeat complete blood count showed hemoglobin of 12 g/dl 10 days after admission. She was discharged to home on oral ferrous sulfate with follow-up in our clinic, as other clinical management procedures were not available. One year after her discharge, our patient was still experiencing intermittent epistaxis and remained on iron therapy. |
A 39-year-old woman was referred to the Department of Otolaryngology—Head & Neck Surgery for a 2-month history of mild left-sided maxillary discomfort, severe left nasal obstruction, and smelly discharge. The history of the patient was characterized by tooth loss in the second quadrant (25 and 26). Patient benefited from the placement of dental implants 3 months before the consultation. First, the surgeon proceeded to the placement of a bone graft for a sinus lift, and, a couple of days later, the placement of three dental implants in the new grafted bone. At this time, the implants were correctly placed regarding the surgeon. According to the anamnesis, the patient benefited from the surgery in an emerging country (medical tourism). The postoperative imaging showed the correct position of the dental implants. One month after the surgical procedures, the patient developed the first rhinosinusal symptoms. The maxillofacial examination showed a giant red mass of the maxillary alveolar ridge in the area of the previous graft (second quadrant, teeth 25 and 26). Flexible rhinofibroscopy revealed a total nasal obstruction of the left side with a bulging of the lateral wall of the nasal fossae. The computed tomography (CT) reported a left maxillary rhinosinusitis, the lysis of the left lateral bone wall, and the migration of the alveolar bone graft into the maxillary sinus (oroantral fistula due to bone defect; Figure ). The giant red mass in the oral cavity consisted of the bulging of the Schneiderian membrane. The surgical treatment of the patient consisted of: (a) the removal of bone graft from the maxillary sinus through middle meatotomy (functional endoscopic sinus surgery approach; FESS), (b) the washing of the maxillary sinus cavity, (c) the removal of two of the three dental implants, (d) the closure of the oroantral fistula with a Bichat flap. These procedures were made in the same operative time. Regarding the bacterial analysis of the content of the maxillary sinus (polymicrobial: Streptococcus, Fusobacterium), patient received postoperative antibiotic therapy for 10 days (empirical amoxi/clav that was maintained). The rest of the postoperative treatment includes nasal saline solution (6/d) and corticosteroid spray (2/d) for 6 weeks. The third implant was well osteointegrated and, thus, not removed. The patient did not want to have another reconstruction, and she opted for removable prosthesis.\nAt the end of the management of the patient and regarding the rare situation of this case, we decided to publish the history of the patient. Thus, we have invited the patient for a free consultation to complete the medical history and the informed consent for the publication. During the consultation, the physician was surprised by history of the patient, which was characterized by many unusual medical events. First, during adolescence, she explained that she easily damaged the teeth when she ate hard foods (ie, baguette, well-cooked meat, etc) and she had many orthopedic traumas. Second, the anamnesis revealed the occurrence of many urinary lithiasis requiring a nephrectomy. Third, the clinical examination reported an important spine and chest deformation. With regard to the unusual clinical picture, we addressed patient to the department of internal medicine for the suspicion of a bone disease (calcium and phosphorus metabolism). A bone scan was realized and reported osteopenia, while chest imaging exhibited important scoliosis with deformation of chest cavity (asymmetric deflection of sternum and the left side of chest). However, the biology was normal. The diagnosis of an idiopathic form of early osteopenia was retained, and patient was carefully followed in the department of bone disease. One year after the surgery, the follow-up of patient was unremarkable. |
A 47-year-old previously healthy Sinhala female's right foot was bitten by a snake near the back door of her home in the Kegalle district, Sri Lanka. Within seconds, she felt burning pain ascending along that limb, and there was heavy bleeding from the site of bite. Within a couple of minutes, she felt dizziness, nausea, and numbness of the whole body, had profuse sweating and frothy salivation, and was screaming in pain from the site of bite. On the way to the nearby hospital, she started to clench her jaw tightly and limbs became rigid; she was frothing and was not responding for about 5 minutes, indicating a generalized seizure. She arrived at the hospital within 30 minutes. The doctor at the outpatient department decided to administer ASV and directed the patient to an internal medicine ward for that. Physical examination findings at the ward were a pulse rate of 100/minute and blood pressure of 150/90 mmHg, and lungs were clear to auscultation bilaterally with an arterial oxygen saturation of 95% whilst breathing air with no neurological deficit. By this time, the killed snake was brought in and doctors identified it as a HNV; thus, antisnake venom (ASV) was not administered. Even though there was bleeding at the site of the bite even on admission to the hospital, her 20-minute whole blood clotting time, platelet count, prothrombin time and international normalized ratio, and activated partial thromboplastin time and liver function tests were all normal. Urine sample obtained via the catheter showed 50–55 red cells per high-power field, arterial blood gases indicated a compensated metabolic acidosis, and serum sodium and potassium levels were normal. Her urine output was <100 ml for the first 24 hours and serum creatinine rose from 80 μmol/l to 277 μmol/l. She was transferred to the Teaching Hospital, Kandy, on day 2 for further management.\nOn day 2, a bulla developed at the site of the bite, and there was an edema and warmth at the right foot. Complete (full) blood count demonstrated neutrophilic leucocytosis, and the CRP level of the following day was 261 mg/l. Intravenous antibiotics was started to cover the wound infection. Serum creatinine was 377 μmol/l with oliguria on day 2. Serum sodium and potassium levels remained within the normal range from day 1–5. On the day 5, creatine kinase was 75.1 U/l. Regular hemodialysis every other day from day 2 to day 24 and fluid management were started. Oral sodium bicarbonate was started, and management of her acute kidney injury with collaboration of nephrology team continued.\nOn day 3, her blood pressure rose to 160/90 mmHg, and it was controlled by prazosin and nifedipine SR; however, it generally remained on or above 140/90 mmHg until her discharge. She developed bilateral lung crepitations on day 3 that remained for 7 days. She developed bilateral parotid swelling and edema of the right leg on day 3, and it lasted 3 days. Edema below her right knee persisted another 10 days. Her blood picture on day 2 did not show hemolysis and was suggestive of bacterial infection but blood picture on day 5 showed evidence of microangiopathic hemolytic anemia (MAHA), and same changes were there in a blood film taken on day 11, as depicted in .\nHer day 2 hemoglobin level of 10.8 g/dl dropped to 8.4 g/dl on day 5. On day 2, her platelet count was 104 × 109/l and that dropped to nadir of 29 × 109/l in day 6 and was <150 × 109/l until day 20. A consultant in transfusion medicine has assessed her, and blood transfusion and plasmapheresis was performed on day 7. Another four cycles of plasmapheresis followed. Local edema at the site of the bite increased with necrosis (); thus, wound debridement was done on day 7 and followed up by regular wound toilets.\nWe did an electroencephalogram (EEG) on this patient on the earliest available day (day 11) and that was normal. The 2D echocardiogram done on day 17 was also normal.\nThe offending snake's carcass was taken to the Peradeniya University, and an expert on HNV, Dr. Kalana Maduwage, has confirmed it as a Hypnale hypnale. is a photo of the offending snake.\nAs her daily urine output improved to >1000 ml, she was discharged on day 30 and asked to come for a review in five days. She defaulted treatment and was on alternative medication. After developing progressive bilateral ankle edema and exertional dyspnea, she came back again on day 46, and hemodialysis and supportive therapy were restarted at the nephrology unit. On day 49, she had an anterolateral non-ST-elevation myocardial infarction (non-STEMI), and she was managed at the cardiology unit. She had progressive impaired vision of the left eye starting from a few days after the snakebite and could not count fingers held 30 cm in front of that eye on the 46th day. She was referred to the eye unit, there was bilateral optic disc edema more on the left, the patient was diagnosed of left anterior ischemic optic neuropathy (AION), and steroid therapy was started. Her erythrocyte sedimentation rate and contrast-enhanced computed tomography (CECT) brain done on day 53 were normal. is a photograph of fundi of this patient.\nShe had two episodes of seizures on day 76, and we suspected a possible relationship to her envenomation. The opinion of the neurology team regarding three seizures was obtained. Repeated EEG and CECT brain were normal. Despite being on calcium carbonate 500 mg plus 0.25 μg 1-alpha-hydroxycholecalciferol daily from day 46, her serum calcium level was low (1.8 mmol/l). Last two seizures were attributed to hypocalcemia due to chronic kidney disease following HNV envenomation, and daily calcium carbonate dose was increased to 500 mg thrice daily. After three months, she was diagnosed of end-stage renal disease by nephrology team and on hemodialysis once in four days and was searching for a kidney donor at six months. |
A 55-year-old man with a 5-year history of multiple sclerosis had been treated subcutaneously for 4 years with GA 40 mg 3 times weekly. He changed injection sites every time (abdomen, ventral thighs, buttocks) and experienced occasional mild injection site reactions with coin-sized skin swelling and induration which resolved within weeks. Approximately 30 s after the last injection in the lower left abdomen the patient experienced a sudden-onset intense, radiating pain. Two minutes later, he developed an extended urticarial swelling with erythematous borders mainly on the left side of his abdomen. The irregular reticular and serrated lesions also extended to the right side (Fig. ). There were no systemic symptoms. He was treated with intravenous glucocorticoids and the swelling resolved within hours.\nTwo days later, a livid erythematous macula with irregularly serrated margins developed. The patient suffered from severe abdominal pain and was admitted to hospital. He received intravenous meropenem and linezolid for 2 days.\nA week later, he presented at our department with a well-demarcated reticular erythema of 10 × 15 cm with central blisters and peripheral induration (Fig. ). Routine blood test revealed mildly increased C-reactive protein and creatine kinase, serological autoimmune parameters including autoantibodies to extractable nuclear antigens and double stranded DNA, lupus anticoagulant, and cryoglobulins were negative. Skin swabs showed resident flora. Ultrasound showed a diffuse increase in echogenicity of subcutaneous tissue (Fig. ), as nonspecific demonstration of inflammation, observed for example in lymphedema and cellulitis []. Histopathologically, there was necrosis of the epithelium and sweat glands, thrombosed small vessels, neutrophil infiltration and hematoma in the dermis, but no evidence of primary vasculitis (Fig. ). Direct immunofluorescence was without pathological findings. We made the diagnosis of ECM. Vascular thrombosis and cutaneous necrosis in the absence of signs of vasculitis are the histological hallmarks of ECM [].\nOver the next 6 weeks, the necrotic area demarcated and continued to extend. Surgical debridement, vacuum-assisted closure therapy, topical antiseptics, and dressings led to complete resolution and formation of an atrophic scar during the following 12 weeks (Fig. ). After this episode, the patient refused to resume GA therapy. |
A female patient aged 15 years reported to us with a chief complaint of missing molar teeth on the right lower back region with fluid discharge from the same side for 1 month.\nOn examination, mild diffuse swelling was seen on the right angle region measuring 3 cm × 2 cm extraorally. Intraorally on examination 46, 47, 48 were clinically not seen. The gums over the molar area were inflamed and swollen, showing indentations of the upper molar teeth []. Serous discharge from a small opening distal to 45 was also seen. Orthopantomogram showed a huge radiolucent lesion involving the body of the mandible from distal to 45 to the ramus of the mandible []. Initially, incisional biopsy was done under local anesthesia and sent to histopathological examination which was suggestive of ameloblastic fibroma. Considering the age and the benign nature of the lesion, it was planned to surgically enucleate and curette the lesion under general anesthesia. All the unerupted molar teeth were removed along with the lesion and sent for histopathological examination.\nThe hematoxylin and eosin section showed highly cellular connective tissue stroma comprising odontogenic epithelium arranged in the form of strands, chords and follicles of varying size and shape. The strands are lined by cuboidal-to-columnar ameloblast-like cells with minimal central stellate reticulum-like cells []. The odontogenic follicles of varying size and shapes are lined by tall columnar ameloblast-like cells with palisading hyperchromatic nuclei and central stellate reticulum-like cells. Cystic degeneration is noticed within the odontogenic follicles in few areas. Osteodentin induction is evident; juxta-epithelial hyalinization is evident surrounding few follicles.\nThe connective tissue component resembles the dental papilla characterized by numerous plump fibroblasts which are angular and oval in shape in a background of delicate collagen fibers. Few areas show myxoid appearance along with stellate-shaped cells. Few endothelial-lined blood vessels of varying sizes are seen [].\nOdontogenic epithelial cells of ameloblastic fibroma were fully positive for cytokeratin detected by antibody KL-1. Dental papilla-like mesenchymal tissues, especially around the dental lamina, were positive for tenascin. |
A 75-year-old woman complained of sharp and shooting pain in the right frontal region for one month.\nThe patient had received a cervical epidural block twice at an orthopedic clinic because of sudden shoulder pain in the C4/5 dermatome and atypical headache. However, she still had sharp and shooting pain in the right frontal region. The pain was so severe that she could not sleep at night and touch her hair. Eighteen days after the symptoms occurred, she collapsed due to dizziness. One month after initial onset of symptoms, the patient was admitted to the otolaryngology department of our hospital and received steroid pulse therapy for sudden left hearing loss. In addition, the patient was referred to a pain clinic. When the pain physician asked the patient about her symptoms, she said that the right forehead hurt the most. No typical rash was observed in the patient's ear or the area of pain. There was no history of a rash or trauma (Figure ).\nThe patient had no previous diagnosis.\nThe patient had no significant family history.\nNo neurological abnormalities were observed. The patient’s symptoms were not provoked by neck movement or pressure over tender points in the neck and did not worsen with the Spurling’s test.\nThe result for varicella-zoster virus (VZV)-IgM (titer 2.7) was positive in a test conducted to determine the cause of sudden hearing loss. The test was performed 23 days after the onset of pain. When she was referred to the pain clinic one month after the occurrence of symptoms, VZV-IgG and polymerase chain reaction (PCR) tests were performed to precisely determine the patient’s condition. Serum VZV-IgG (titer, 4.26) finding was positive. However, DNA in the serum was not detected by PCR testing.\nBrain computed tomography and magnetic resonance imaging (MRI) were performed to diagnose central origin lesions, but no abnormalities were observed. MRI of the cervical spine was performed under the suspicion of cervicogenic headache and cervical radiculopathy, and C3/4 central disc protrusion, C4/5 disc protrusion, right neural foramina stenosis at C4/5, focal compression of the spinal cord at C4/5, and C5/6 disc protrusion were observed (Figure ). |
We report the case of a 46-y.o. Italian Caucasian man (1.70 m, 70 kg), working as a full-time legal consultant.\nHe was brought to the emergency room of our Psychiatric Department in 2013, after having ingested a large quantity of zolpidem, a prescription drug indicated for insomnia, with suicidal intent. His family history was negative for psychiatric disorders, but he presented a positive medical history for liver disease (active chronic hepatitis C and Gilbert's syndrome). He had never suffered from any psychiatric symptoms in his childhood, adolescence or early adulthood. He had no family history of psychiatric disorders.\nThe patient’s psychopathological onset occurred three months prior to admission when, after continuous use (from one to three times a week) of a non-specified recreational drug since July 2012, provided to him by a friend who used to buy it online. He developed a persecutory delusion, characterized by the conviction of being spied upon by some unknown people who placed video cameras around his house. In addition, he believed that sexual activity he had with his wife was being filmed and then spread on pornographic websites. For this reason, in the following weeks, he made a written complaint against unknown persons and presented it to the local police office. In addition, one night he called the police force to his own home, as he saw suspicious movements outside his window. On that occasion, the police found out that the patient had a gun, which was then confiscated due to security concerns. Thus, the police then became part of patient’s delusional plot: the patient started thinking his daughter was involved in prostitution and he blamed the police for that. These events, along with two formal warnings received from his employer (since he did not show up for work for many days in a row), and a prolonged condition of global insomnia, generated a state of severe discouragement and embarrassment in the patient. On account of this he attempted suicide by ingesting a large quantity of zolpidem tablets (about 40 tablets of 10 mg, as related by the patient himself). Zolpidem had been prescribed four months prior to admission by a general practitioner to treat the patient’s insomnia.\nIn the emergency room of our hospital, the patient was initially drowsy and slow in his movements, although he was eupneic and had stable vital parameters. He underwent a physical examination, an electrocardiogram, a chest X-ray and a brain computer tomography, which were all normal. Though initially considered appropriate, no gastric lavage with activated charcoal was conducted as the patient had a spontaneous episode of vomiting. The patient was rehydrated with intravenous physiological saline and then admitted to our ward.\nSince the first day of admission, during the daily interviews with the medical staff, the patient showed the same delusional ideas described above and showed a very poor insight about his psychopathological condition [Brief Psychiatric Rating Scale (BPRS) score=50]. He admitted that the drug he had been taking during the previous months might have had a role in the development of his thoughts, but this did not change his belief that he was being persecuted by the police and his colleagues and managers at work. During his hospitalization, which lasted 17 days, his prolonged insomnia improved. He developed a mild criticism of his delusion, doubting some of the events he had reported, but contemporarily maintained a suspicious behavior towards the nurses and the doctors and an overall persecutory ideation. At discharge, he reported that he intended to sue the policeman who visited him at home as he had no right to suspend his gun license, showing overall poor insight and a very solid and structured delusion (BPRS score=31).\nAs soon as the patient was admitted to our ward, we collected blood and urine samples, which were analyzed by the central laboratory of our hospital. Haematological and chemistry tests highlighted a condition of normocytic anemia (Hb 11.2 mg/dl, Ht 33.4%, mean cell volume (MCV) red cells 3.55 × 10\n6/mmc) and a mild hepatic distress [alanine transaminase (ALT) 136 U/l]. Routine screening for psychotropic drugs gave negative results. A positive emission tomography (PET) was performed on the 10\nth day of admission, which showed some unspecific findings consisting of an increased glucose metabolism in the basal nuclei but normal levels in the cortical regions.\nDuring the hospitalization period, a sample of the drug the patient had used for some months, in the form of white powder, was found at his home and delivered to the medical staff. This powder sample, along with further blood and urine samples, were sent to the Legal Medicine laboratory in the Forensic Toxicology section of our University, after having obtained a regular written consent from the patient. A specific analysis on the three samples was conducted by means of gas chromatography/mass spectrometry and liquid chromatography/high resolution mass spectrometry. The following molecules were found by the analysis on the powder: methylenedioxypyrovalerone, mephedrone, butylone and alpha-pyrrolidinopentiophenone (a-PVP) (the proportion of the each was not provided by the laboratory) (\n). Traces of methylenedioxypyrovalerone were found in the urine sample. A test for psychotropic drugs gave negative results for the blood sample.\nWith regards to the psychopharmacological therapy, since the beginning of his hospitalization the patient was treated with haloperidol 5 mg daily, showing an overall good medication adherence although his response was very poor. For this reason, we decided to administer an injection of haloperidol decanoate at a dosage of 150 mg (to be repeated every 4 weeks, as part of an outpatient regimen). One month after his discharge, in a follow-up visit, the patient showed a BPRS score of 29, corresponding to a slight improvement in persecutory delusion but no change in insight. |
A 28-year-old Caucasian woman underwent a uterine evacuation for a molar pregnancy at her local hospital and was registered for follow up with the United Kingdom (UK) Gestational Trophoblast Tumour service. The histopathology review confirmed the diagnosis of a complete molar pregnancy and as such she was enrolled in the hCG surveillance programme. After an initial early fall in her serum hCG level, her hCG level rose in two consecutive samples, because of this she was reviewed in clinic 14 weeks post-evacuation prior to consideration of chemotherapy treatment.\nShe had an unremarkable medical history, with two normal pregnancies, no major surgery or illnesses and no regular medications. The routine investigations demonstrated an hCG value of 2070IU/L, a normal chest X-ray and no visible uterine mass on the pelvic Doppler ultrasound but some increased vascularity. These results confirmed the indications for treatment and produced an International Federation of Gynecology and Obstetrics (FIGO) prognostic score of 1. Following the UK’s standard treatment protocols, chemotherapy treatment was commenced with the low-risk regimen of methotrexate and folinic acid [].The patient was well 6 weeks after the commencement of chemotherapy but reported two modest episodes of haemoptysis and was readmitted for emergency investigation. Initial blood tests confirmed a normal clotting screen and platelet count, whereas a computed tomography (CT) scan of her thorax demonstrated a 17mm lobulated nodule in the apical segment of her left lower lobe. Surrounding this lesion, there was patchy ground glass opacification consistent with pulmonary haemorrhage (Figure ). The CT findings were typical of a pAVM, probably due to a small pulmonary metastasis, complicated by recent haemorrhage.An urgent referral was made to the interventional radiology team and emergency pulmonary arteriography confirmed the presence of a pAVM (Figure ) with two separate feeding vessels. The pAVM was successfully embolised with magnetic resonance-compatible coils as shown in Figure and led to resolution of the haemoptysis. A follow-up thoracic CT 4 years after embolisation confirmed that the pAVM had been cured as shown in Figure .\nJust prior to the embolisation procedure, her chemotherapy treatment had been changed to the etoposide, methotrexate and dactinomycin alternating with cyclophosphamide and vincristine regime as a result of a slow rate of hCG fall with methotrexate. Subsequent to this change, her hCG levels normalised 3 weeks later and after an additional 6 weeks of treatment chemotherapy was completed as shown in Figure . She remains well 4 years later, is cured of her tumour, has gone on to have another healthy baby and has had no further episodes of haemoptysis. |
A 35-year-old male was referred from Department of Psychiatry who was diagnosed with anxiety and depression to the Department of Dental surgery, Armed Forces Medical College, Pune, for opinion and management of dehiscence due to masochistic habit. On electing the history of presenting illness, this patient was a known case of depression and anxiety due to socioeconomic and job insecurity. He was a migrant from Assam (North eastern part of India) in search of better prospect of life and was working as a daily wage construction employee and as a security guard in night. He reported to Department of Psychiatry 6 months back with the chief complaint of sleeplessness, insomnia, lethargy, and severe depression due to hopelessness from life. He had developed this factitious habit of gingival picking in the lower anterior tooth with fingernail during night duty hours due to loneliness and attained pleasure from pain upon self. These unconscious repeated habits aggravated over a period of time and lead to complete denudation of soft and hard tissues till apex of tooth #31 measuring approximately 10 mm × 4 mm in length/width []. He was undertreatment with antidepressants (Alprax 0.5 mg-alprazolam) and frequent psychological counseling and positive reinforcement toward life for last 6 months and was advised for change of job with better financial benefits with decreased stress. He was responding well to drugs and psychological counseling and was coping well with anxiety and stress. He was referred to Department of Dental surgery by the treating physician for the management of dehiscence.\nOn general physical examination, he was moderately built and nourished, well oriented to time, place, and person. Intraoral soft tissue examinations were all normal except the presence of gingival recession/dehiscence in relation to tooth #31. The length/width of recession was 11/4 mm with visible apical root tip. The tooth was nonvital with no mobility. The adjacent interdental soft and hard tissues were normal. A diagnosis of Millers Class II was made since the recession was extending beyond the mucogingival junction, but there was no pathologic migration with soft and hard tissue loss in the interdental area as seen in intraoral periapical radiograph. After obtaining an informed consent and routine blood and urine investigations, a treatment plan was made and decided to treat this case in two phases:\nPhase I: Patient was put in maintenance phase where the patient was initially subjected to scaling and was prescribed 0.12% chlorhexidine mouth rinse twice daily till completion of the treatment followed by repeated counseling, patient education, motivation, and restraining from SIB in which the patient was made to realize the damage caused by the habit Phase II: Surgical phase – The patient was taken up for single sitting root canal treatment and apicoectomy followed by esthetic root coverage along with increasing the width and thickness of attached gingiva using the PPG in a single surgery.\nThe facial skin around the oral cavity was scrubbed with 7.5% povidone iodine solution, and the intraoral surgical site was painted with 5% povidone iodine solution. The patient was locally anesthetized with 2% lignocaine with 1:80,000 adrenaline. After obtaining local anesthesia, an intrasulcular incision was made with No. 11 Bard Parker surgical blade; depapillation along the length of defect was done till the apex followed by single sitting endodontic treatment and obturation with Gutta-percha points and intracanal medicament []. Apicoectomy of the apical end was done to create a closed, hermetic-sealed compartment.\nRoot surface was planned with curettes, and root surface was modified with tetracycline. Two horizontal incisions slightly apical to cement enamel junction were made preserving the gingival margin of the neighboring teeth. This incision was perpendicular to tooth #31, and approximately twice the width of the recession followed by two vertical incisions extended beyond the mucogingival junction keeping the base of the flap wider. A partial thickness flap was raised carefully along the mesial and distal sides of tooth #31 []. The periosteum along the distal side was separated from the bone carefully with a periosteal elevator keeping the pedicle of 2 mm intact along the length of the root like a “wrap around” till the apex []. This PPG was secured and sutured to adjacent periosteum with resorbable sutures []. The partial thickness flap on the distal side was secured to its original position with 3-0 silk sutures whereas the partial thickness flap on mesial side was laterally slided so as to cover the “wrap around” periosteum over the defect completely. The distal end of the flap was sutured to periosteum which was exposed due to lateral sliding []. Periodontal pack and postoperative instructions were given to the patients. Patients were prescribed antibiotics and analgesics and instructed for oral rinsing with 0.2% chlorhexidine mouth wash twice daily. Both the sutures and pack were removed one week postoperatively followed by regular recall visit every 15 days for 2 months. At the end of nine months, there was uneventful healing with no pain, swelling, and infection. Postoperative length/width of recession was 3/4 mm with approximate soft tissue coverage of almost 70% []. The diagrammatic representation of the surgical procedure is given in . |
A 67-year-old woman underwent right modified radical mastectomy and axillary lymph node dissection for carcinoma of the breast 15 years ago. Histological examination of the tumour revealed a 4 cm invasive lobular carcinoma of histological grade 2. Two of the 20 lymph nodes examined were infiltrated by tumour cells. Immunohistochemistry for oestrogen and progesterone receptors showed weak staining of 20% of cancer cells for both receptors. There was no evidence of distant metastases at the time of diagnosis. The patient received six cycles of adjuvant chemotherapy (cyclophosphamide 500 mg/m2, mitoxantrone 10 mg/m2, 5-fluorouracil 500 mg/m2, every 21 days) and was on tamoxifen. Ten years later a local recurrence occurred, and the patient underwent partial resection of the thorax wall followed by reconstruction by transverse rectus abdominis musculocutaneus (TRAM) flap technique. No adjuvant treatment was given. The patient came to our attention complaining of a 4-month history of diffuse abdominal pain associated to constipation, tenesmus and sporadic rectal bleeding. On physical examination, the patient was pale but moderately nourished. The mastectomy bed, the controlateral breast, and both axilla were normal. Abdominal examination showed no palpable mass or ascites. At digital examination the rectum appeared stenotic from about 6 cm above the anal verge, but without evidence of endoluminal masses. Haematological analysis and biochemical parameters including liver and renal function tests were within the normal range. The urine cytology revealed micro-hematuria. The patient was submitted to a rectosigmoidoscopy which showed a diffuse thickening of the anterior wall of the rectum, which determined mild stenosis beginning 7 cm above the anal verge, without evidence of endoluminal masses. The mucosa which lined the anterior rectal wall was hyperaemic and easily bleeding. The posterior wall of the vagina showed diffuse thickening at vaginal endoscopy. The histological examination of multiple biopsies taken during rectosigmoidoscopy, revealed an extensive infiltration by scarcely cohesive neoplastic cells with "Indian file" features and focal targettoid arrangement around rectal glands (Fig , ). The vaginal biopsy confirmed a prevalent "Indian file" neoplastic growth pattern (Fig. ). In both biopsies malignant cells were small, with atypical nuclei and vacuolated cytoplasm, often with "signet ring" morphology. The rectal glands and the vaginal epithelium showed no atypias A panel of selected immunohistochemical markers was used to confirm the metastatic nature of the neoplastic mass and its site of origin. Immunohistochemical stainings for oestrogen and progesterone receptors (Fig ), GFCDP-15, C-ERB-B2 and CK 7 were positive. Otherwise, they resulted negative for CK 20, WT-1, CA-125 and CDX-2. This immunohistochemical pattern, together with the typical morphological picture showed above, let us confirm the diagnosis of metastatic location from ILC.\nA computerised tomography (CT) scan of the abdomen and pelvis showed how the pelvic cavity was almost completely occupied by neoplastic tissue which infiltrated the rectal wall, causing marked stenosis, both the ovaries, the fundus of the vagina and the left lateral wall of the bladder, with involvement of the left ureter and concurrent hydronephrosis. Multiple enlarged lymph-nodes were identified in the perirectal fat, along the common iliac artery and the obturator chain and in the inter-aortocaval space. The liver and the chest appeared normal. Mammographic and ultrasonographic picture of the left breast and of both axilla were normal. On the basis of the diagnosis of wide peritoneal and extraperitoneal metastatic spread of ILC, the patient entered a protocol of systemic chemotherapy and hormonal therapy after the placement of a J ureteral stent to pass through the stenosis evidenced by the CT scan and confirmed by cystoscopy. |
A 30-year-old male with right sided parasymphyseal fracture mandible was scheduled for open reduction and internal fixation. The patient had difficulty in opening the mouth due to pain (3 cm). General physical examination and laboratory investigations were within normal limits. Informed written consent for the nerve block was obtained and visual analogue scale (VAS) of 0-10, was explained to patient.\nIn the operation theater, standard monitoring was established. Anesthesia was induced with thiopentone and tracheal intubation was facilitated with succinylcholine. Neuromuscular blockade was achieved with vecuronium and anesthesia was maintained with O2 and N2O using controlled ventilation. The right side of the face was prepared for mandibular nerve block with lateral extraoral approach [].\nAn 18-gauge i.v. cannula was inserted at midpoint of lower border of the zygomatic arch and was advanced perpendicular to face until it contacted the lateral pterygoid plate. The length of the cannula outside the skin was marked and cannula was redirected slightly posterior to reach behind the posterior border and was advanced further by 0.5 cm. The needle from the cannula was withdrawn and 18G epidural catheter was threaded. Catheter was tunnelled subcutaneously and the filter was attached to its other end []. For surgical analgesia, a bolus dose of 4 ml of 0.25% bupivicaine was given through the catheter. Fentanyl 1mg/ kg i.v. was given only when there was more than 20% increase in heart rate or blood pressure above base line. The surgery lasted for 2 h. At the end of surgery, neuromuscular blockade was reversed and the trachea extubated. Following extubation, the patient was conscious and pain free and then shifted to ward. Post Operatively, he received 4 ml of 0.25% bupivacaine through the epidural catheter every 12 h for two days. VAS score was measured immediately after surgery and thereafter at 1, 2, 4, 6, 12, 24, and 48 h respectively. Patient was observed for numbness at the surgical site, need for rescue analgesia, complications (nausea, vomiting). The patient's vitals remained stable throughout the period of observation. His VAS score ranged between 2 and 4 with pain free jaw opening. There were no complications and he did not require any rescue analgesia. The catheter was removed after two days. There was no evidence of infection at the exit site. Numbness in area of lower jaw line was present throughout the period but subsided after discontinuation of local anesthetic through epidural catheter. He was discharged on fourth post operative day with advice for follow up in O.P.D. |
A 23-year-old male patient presented with a painless nonhealing ulcer at planter aspect of the ball of right great toe associated with anesthesia of that region 1 year back. The patient was nondiabetic, nonhypertensive, and there was no history of neurological abnormality or immunocompromisation. He denied of having addiction as well as any contact with patients having TB or leprosy. There was no significant drug history. On examination, there were atrophied and discolored toes, secondary deformities, and muscle weakness with an ulcer of size 6 cm × 5 cm. The common peroneal nerve was thickened. Systemic examination was unremarkable. Slit skin smear was undertaken by slit and scrape method from the most active looking edge of the skin lesion, and it showed a positive result with a biological indicator of 5+ and myocardial infarction 28%. X-ray of the right foot was unremarkable. The patient was then diagnosed as a case borderline tuberculoid leprosy with trophic ulcer and advised multidrug therapy (MDT) multibacillary adult with proper rest and regular dressing. In an interval of 2 weeks, the patient came for follow-up till 2 months, and it was evident that the ulcer was healing. After that, the patient did not come anymore. Now, 4 months back, he returned with chronic mucopurulent discharging sinus, ulceration, granulation, and crusting over the same site []. He stated that he had been suffering again for the past few weeks and already had stopped MDT for 3 months. He was advised strict bed rest and broad-spectrum antibiotics along with MDT to continue. After 3 weeks of treatment, there was no significant improvement. On 2nd visit, the pus was sent for Gram-stain and culture sensitivity along with fungal culture. There was no significant growth in culture report and fungal culture was negative. Stains for Nocardia and Actinomyces were negative. X-ray showed no significant change in great toe in both antero-posterior [] and lateral view []. Even on 3rd visit after 1 month of antibiotics, dressing, MDT, and most importantly strict rest, the sinus was not healing at all. Then, the pus was sent for AFB staining with ZN stain (20% sulfuric acid as decolorizing agent) and BACTEC culture. Both the AFB staining [] and BACTEC culture [] came positive with BACTEC negative for control [] along with positive Mantoux test (16 mm indurations with 1 TU at 48 h). Chest X-ray along with all other investigations such as complete hemogram, urine analysis, and fasting blood sugar was normal. HIV ELISA was nonreactive. Based on the history, clinical features, and laboratory reports, a diagnosis of cutaneous TB was made at the same site which was already infected with M. leprae. He was then advised to start CAT-I antituberculous drug and to continue MDT without rifampicin 600 mg monthly dose. After 1 month of this treatment, the sinus was healing gradually, and there was no discharge []. However due to unavailability of facility, Antitubercular and antileprosy drug susceptibility was not carried out. |
A 63-year-old male reported to the outpatient department with a complaint of bad breath and pain in the upper right back teeth region for 3 months. Initially, the patient was asymptomatic and then gradually noticed radiating pain to the upper jaw, nose region and the forehead. The patient is a known diabetic and hypertensive for 2 years and is under medication. Dental history revealed that he underwent extraction 15 years back. No relevant family history was reported.\nExtraoral examination revealed a diffused swelling with ill-defined borders []. Bilateral submandibular lymph nodes were palpable, which were firm and tender on palpation.\nIntraoral examination revealed bone erosion of the maxillary arch with pseudomembranous slough. Necrotic bone was seen in the region of the palate and in the maxilla region extending from 18 to 26 region, and exposure of palate in the midline was also noticed. Missing teeth seen in relation to 11, 12, 13, 14, 15, 17, 18, 21, 22, 23, 25 and 28 [].\nInvestigations were performed. The patient's blood glucose levels were tested and the fasting blood glucose level was found to be 230 mg/dl, whereas the postprandial blood glucose level was 380 mg/dl. Computerized tomography scan revealed erosion of anterior maxilla and midpalatal region []. PNS view revealed moth-eaten appearance involving the upper anterior alveolar ridge [].\nAn incisional biopsy was performed. Histopathological examination revealed numerous thick-walled, irregularly branching nonseptate hyphae in the background of necrotic tissue at the periphery of the bony trabeculae [] and was seen invading into the small blood vessels, which is suggestive of mucormycosis, and the tissue showed a peripheral band of fibrosis encasing a zone of chronically inflamed granulation tissue surrounding large collections of polymorphonuclear leukocytes and colonies of microorganisms. These colonies consist of club-shaped filaments that form a radiating rosette pattern suggesting actinomycosis []. Surgical excision of necrotic bone and adjacent soft tissue was done and sent for histopathological examination []. Histopathologic findings were in accordance with the incisional biopsy, and a final diagnosis of mucormycosis associated with actinomycosis was given. |
A 47-year-old male patient presented to a metropolitan hospital with a new onset of fever, headache, right-sided weakness, and dysphasia. His background included a history of paranoid schizophrenia and cannabis abuse. The patient strongly denied the use of injectable drugs. His only medication was longstanding depot risperidone injections. He was a smoker with no known allergies. A computerized tomography (CT) of the brain revealed a 2 × 3 cm mass in the medial left frontal lobe consistent with the diagnosis of a brain abscess. Initial biochemistry and a complete blood count were normal, including liver enzyme tests. Successful neurosurgical drainage of the brain abscess was undertaken in theatre. Cultures taken from the abscess material grew Streptococcus anginosus, and the patient was commenced onto treatment with benzyl penicillin, according to the sensitivities. Phenytoin was initiated as a prophylactic anticonvulsant at an initial dose of 300 mg nocte., increased to 500 mg over 2 weeks. Anticonvulsant therapies are individualized within the neurosurgery department according to consultant preference, but the prescribed regime was in keeping with the regional clinical protocol for enteral phenytoin administration. Levels were measured and found to be below the normal range (20 umol/L (normal range 40–80 umol/L)). A week following surgery, the patient was referred to a rehabilitation unit.\nThree weeks after admission to the rehabilitation unit (day 27), the patient developed fever (38.4 degrees Celsius). Blood cultures were undertaken, a chest X-ray (CXR) ordered, and a CT scan of his brain repeated which showed a reduced abscess cavity compared to his previous study. A day later the patient developed erythema over his upper torso, malaise and rigors. On the recommendation of the general medical unit on take in the hospital, the patient was commenced on antibiotic therapy (vancomycin), and his biochemistry repeated. The results of the biochemistry revealed deranged liver enzymes () and an elevated CRP (120 mg/L (normal range <8 mg/L)). An ultrasound of the liver was ordered and further blood cultures were taken. His fever persisted and the rash worsened over the following 24 hours. Additionally he was found to have developed lymphadenopathy. The decision was made to transfer the patient to the acute general medical unit within the hospital. After discussion with the on call medical registrar, phenytoin therapy was discontinued. He was also treated with an antihistamine. The rash and temperature persisted, but all cultures remained negative and CXR clear. The liver ultrasound was essentially unremarkable. Additional autoimmune serology was negative. Serology for hepatitis A, B, and C as well as CMV, EBV, and human herpes viruses were also ordered at this point and were negative. The eosinophil count was 0.5 × 109/L (N 0.02–0.05 × 109/L). The patient had rhabdomyolysis with a total CK level of 3485 u/L (N < 250 u/L) and atypical lymphocytes on blood film. The benzyl penicillin was discontinued, after which the patient rapidly improved with complete resolution of fever within 24 hours and clearing of his rash. Liver enzymes remained elevated, but decreased and eventually returned to complete normality 42 days after becoming elevated (). |
A 44-year-old woman with a history of metastatic triple negative breast cancer and lung metastases presented with a six-month history of recurrent haemoptysis. She had no other significant medical history. She was initially managed for her right breast cancer with a wide local incision and adjuvant chemoradiotherapy in 2014; however, her malignancy recurred two years later. She had positive margins on subsequent right mastectomy and proceeded to excision of the right pectoralis major and overlying dermis. Six months later she was found to have bilateral pulmonary metastases and underwent initial diagnostic bronchoscopy identifying a bleeding mass in the medial segment of the right middle lobe (RB5), which was subsequently treated with topical adrenaline and biopsied – confirming metastatic disease. Her malignancy progressed despite palliative chemotherapy with epirubicin and cyclophosphamide, during which time she developed worsening haemoptysis of ~1/2 cup (~120 mL) daily. A multidisciplinary decision was then made to perform therapeutic bronchoscopy due to excessive distress caused to the patient because of haemoptysis. She underwent bronchoscopy using a therapeutic video bronchoscope (Olympus BF-TH190, Olympus Corporation, Tokyo, Japan) introduced via a rigid bronchoscope, which provided secure airway access. Endobronchial survey revealed the source of bleeding in the distal right middle lobe, although the actual bleeding source was not directly visible. A volume of 2 mL of TISSEEL was injected into the right middle lobe bronchus via a catheter followed by deployment of a size 6 Spiration (Redmond, WA, USA) IBV to add stability and prevent expectoration (Fig. ). A further 1 mL of TISSEEL was then applied over the valve (Fig. ). The procedure abolished the patient's haemoptysis instantly.\nTwo weeks later the patient developed recurrent haemoptysis; however, repeat bronchoscopy showed a different source of bleeding in the right lower lobe, with the existing combination TISSEEL and IBV still in place in right middle lobe and maintaining haemostasis. To control the new bleeding TISSEEL was injected in the right lower lobe bronchus distal to the opening of RB6, followed by deployment of a size 9 IBV. Further injection of TISSEEL was then applied and haemostasis was achieved. Unfortunately the patient was found to have brain metastases and died of her malignancy 10 weeks later, without recurrence of haemoptysis. |
The first child was a 10-year-old girl who presented with severe developmental speech delay until she reached 3 years old, at which point she began to speak minimally. At the age of 3 years, it was discovered that she suffered from short-term memory loss, although her long-term memories remained intact. At the age of 4 years, she began to lose sphincter control and was no longer able to control urination or defecation. She had shown normal motor development until 4 years of age, at which point she began to develop ataxia (fear of going downstairs) and weakness while walking. Atonic and myoclonic seizures also began to affect her at this age and could not be completely controlled despite the use of three anti-epileptic drugs (topiramate, levetiracetam, and valproate). Over the course of the subsequent year, her motor skills continued to decline, as she went from having difficulty walking to being limited to crawling. At 5 years old, she was completely unable to stand or sit, and was found to have very poor concentration and a very short attention span. Moreover, she had almost no expressive language, only vocalizing and echoing single words or screams with unclear sounds. She was incapable of imitating or playing with other children. At 5 years old, her mental age according to the Stanford-Binet Intelligence Scale was below the age of 2 years and her IQ was below 35.\nShe was born by spontaneous delivery after a healthy 40-wk pregnancy with a typical birth weight of 3.5 kg and no postnatal complications. The family consisted of consanguineous parents (first cousins), two affected children, four healthy progenies, and one deceased daughter (Figure ). The daughter died at 8 years of age, was reported to have had a clinical presentation similar to that of the current two affected children, but was not diagnosed or tested genetically. Both affected children (sisters) had a similar clinical course and the same family history. There was no other relevant family history.\nIt is important to note that the patients had otherwise normal laboratory values. Complete blood count (CBC) test, liver function test, kidney function test, serum electrolyte test, and blood sugar test were all normal. Other tests included a serum amino acid profile, B12 level test, and thyroid function test.\nA computed tomography (CT) scan at the time showed no abnormalities, and an electroencephalogram (EEG) showed a generalized spike and wave pattern. Subsequent brain magnetic resonance imaging (MRI) showed mild fronto-parietal brain atrophy.\nTopiramate, levetiracetam, and valproate.\nThe second child was a 9-year-old girl who was born by spontaneous delivery after a healthy 38-wk pregnancy with a typical birth weight of 3.25 kg and no postnatal complications. She had normal gross motor, fine motor, hearing, speech, and social behavioral skills until the age of 4 years. At this age, her expressive language began to decline, although her concentration and attention span remained acceptable. When she reached an age of 4 years and 8 mo, her mental age according to the Stanford-Binet Intelligence Scale corresponded to an age of 2 years and 7 mo, with an IQ score of 47. She complained of some minor dizziness and imbalance while walking and was reported to have mildly decreased short-term memory. At this age, she was able to imitate children at play and was able to play with her siblings. She had no vision or hearing loss, and no loss of sphincter function.\nIt is important to note that the patients had otherwise normal laboratory values. CBC test, liver function test, kidney function test, serum electrolyte test, and blood sugar test were all normal. Other tests including a serum amino acid profile, B12 level test, thyroid function test, and a brain CT scan were also normal.\nA subsequent brain MRI also showed no abnormalities. However, her condition progressively declined until she turned 8 years old, when she could no longer stand, had very poor short-term memory, very poor speech, and had lost the ability to control urination and defecation. She required three anti-epileptic drugs (topiramate, levetiracetam, and valproate) to help manage her intractable atonic and myoclonic seizures, which were confirmed by EEG showing a generalized spike and wave pattern. Currently, at 9 years old, her hearing and vision have continued to decline and she is beginning to have some difficulty recognizing her mother.\nBoth patients were initially thought to have a form of regressive autism [childhood disintegrative disorder (CDD)] due to their poor social skills and normal initial laboratory tests and imaging results. Interestingly, there do exist lysosomal storage disorders which are associated with CDD[-]. A neurodegenerative disorder was suspected when MRI results revealed mild brain atrophy in the older sister and when the disease in both siblings began increasing in severity.\nDifferential diagnoses included leukodystrophy, subacute sclerosing panencephalitis, tuberous sclerosis, and CDD. The first three differential diagnoses were ruled out based on history, examinations, and investigations. Specifically, leukodystrophy was ruled out based on MRI results, subacute sclerosing panencephalitis was ruled out since EEG recordings failed to show any periodic patterns, and tuberous sclerosis was excluded due to the absence of any skin manifestations. A diagnosis of CDD was therefore tentatively established. Eventually, when the opportunity arose to perform whole exome sequencing (WES) on a group of patients from our hospital, we selected these two cases given that we still had not yet obtained a final diagnosis. Not only did the WES results give us a definitive diagnosis, they also increased our awareness of the value of WES for similar cases.\nWES was conducted on the proband III-6 using an Illumina HiSeq 2500 platform (Illumina) and Sure Select XT Human All Exon (Agilent). Sequencing reads were mapped to the Genome Reference Consortium Human Genome Build 37 (GRCh37) using BWA-0.5.10[]. Polymerase chain reaction duplicates were removed using samblaster[]. Single-nucleotide variants and small insertions/deletions (indels) were identified with freebayes[] and annotated with SnpEff-3.3 (Ensembl-GRCh37.73)[]. Sequencing was performed in the Institute of Medical Genetics and Applied Genomics at Tübingen University in Germany using the pipeline megSAP[]. Variants that were located in the protein coding region (according to Ensembl database v68) were identified with at least 20X coverage and a mapping quality score ≥ 60.\nThe homozygous variant NM_017882.2:c.794_796delCCT;p.Ser265del was identified in the CLN6 gene. The variant was inspected visually with Integrative Genomic Viewer (IGV)[]. The variant is homozygous in the second proband III-7 and segregates accordingly in the parents and in the non-affected siblings according to Sanger sequencing results (Figure ). Despite reporting this variant as pathogenic[], it is reported in Clinvar with conflicting interpretations of its pathogenicity. |
A 32-year-old male was referred to the hematology clinic in September 2018 due to complaints of intermittent claudication caused by severe physical inactivity (he had walked approximately 500 m over a 12-month period). Two weeks prior to referral, he had experienced a transient ischemic attack of stable angina. He was taking no medication at the time of referral.\nIn February 2013 the patient had anterior-wall MI at 27 years of age. On cardiac catheterization, the left anterior descending artery was obstructed with a thrombus that progressed distally. A percutaneous coronary intervention was not performed.\nEnvironmental risk factors for arterial disease were initially negative according to the investigations at the time. A typical thrombophilia screen, conducted in March 2013, for activated protein C resistance, antithrombin III, protein S, anti-cardiolipin antibody, lupus anticoagulant, cholesterol, and fibrinogen revealed negative results. The patient received dual anti-platelet therapy (DAPT) for 6 months (aspirin + clopidogrel) with prescription of aspirin for a further 1-year period. The patient discontinued the medication without the physician’s discretion despite experiencing several arterial thrombi while on DAPT.\nIn October 2014, at 28 years of age, the patient had left-sided hemiplegia and was diagnosed with IS. No thrombectomy was performed, and the patient did not receive fibrinolytic therapy because they did not arrive at the hospital within the required onset-to-treatment time (recommended within the first 4.5 h). The patient was started immediately on aspirin 300 mg daily for 2 weeks. The peripheral pulse in the left leg was impaired. Unfortunately, no further investigation of the weak peripheral pulse was carried out at this time. The patient then commenced warfarin 6 mg daily (due to previous episodes of arterial thrombosis) with a therapeutic international normalized ratio of 2–3, for a 12-month period from November 2014 to November 2015.\nIn September 2018 the patients complete blood count was normal, and there was no evidence of any myeloproliferative disorders. A more extensive thrombophilia screen was performed in December 2018, which revealed an elevated level of factor VIII at 365% (normal range 50–200%), that was confirmed on two further occasions 3 months apart. The patient was not taking warfarin at the time of the factor VIII tests. The results of liver function test were within normal limits. The patient was diagnosed at age 32 years with acute coronary syndrome (ACS).\nThe patient was instructed to take the oral anticoagulant warfarin indefinitely and was advised to make certain lifestyle changes, in particular, to exercise regularly. |
A 46-year-old male surgical pathologist presented to our clinic complaining of a 4-year history of increasing shortness of breath. He had been in good health until 20 years prior while in medical school, when he noted a pruritic, erythematous rash on the dorsal aspect of his hands whenever he wore latex gloves. He often applied steroid cream to the rash, but it usually did not resolve unless he refrained from using latex gloves. This rash, associated with latex glove use, persisted during his internal medicine residency. Approximately 14 years before presentation, at the beginning of his pathology residency, he noted that the rash involved his arms. He developed an episodic, nonproductive cough, wheezing, and occasional chest tightness, which occurred at work when he used powdered latex gloves. These symptoms were mild and did not interfere with his vigorous exercise program. He did not seek medical attention.\nAfter completing his residency, the patient worked as a hospital-based surgical pathologist. Typical daily activities involved cutting tissue and frozen sections and preparing slides. He changed gloves several times each day. He did reasonably well until 4 years before presentation (1993), when his symptoms worsened. He then experienced cough and dyspnea within 30 min of starting work. These symptoms, which continued throughout the workday and improved once he left work, seemed especially severe on the first day of the workweek and worsened as the week progressed. The use of xylene and formaldehyde exacerbated his symptoms. He noted an intermittent rash on his upper extremities and torso, occasional flushing with exposure to latex, postnasal drip, progressive dyspnea on exertion, and dyspnea and coughing when he laughed. He noted heavy breathing if he “flipped” his gloves off, and he described an episode of “passing out” 1 year earlier when he “flipped” his gloves off and placed his hands over his mouth and nose. He was taken to a local emergency department, where he was diagnosed as having had a vasovagal episode. He was returned to work without intervention.\nThe patient’s wife and co-workers started commenting on his cough, noting that he “breathed heavily.” He became self-conscious about his cough and about constantly having to clear his throat. There was no seasonal variation to his symptoms. The patient attempted to reduce his exposure to powdered natural rubber latex (NRL) gloves, formaldehyde, and xylene. For example, he switched to non-powdered latex gloves, although his co-workers continued to use the powdered form. He replaced eyecups on the microscope once he realized that they contained latex. He instructed his staff to allow an hour for drying slides fixed with formaldehyde and xylene before sending them to him to be read. His symptoms persisted, however, prompting him to seek medical attention.\nThe patient subsequently consulted with an allergist, an otorhinolaryngologist, and a dermatologist. Skin biopsy of his rash revealed changes consistent with acute urticaria. Latex skin prick tests were positive to latex glove extracts. Skin prick tests were positive to dust, cat dander, and mold antigens, and a computerized tomography (CT) scan of the sinuses revealed nasal polyps in the maxillary sinus. He was diagnosed with chronic sinusitis, asthma, and allergic rhinitis. Treatment included antibiotics and a steroid taper. The patient was started on Serevent (GlaxoSmithKline, Research Triangle Park, NC), Flovent (GlaxoSmithKline), and Proventil (Schering, Kenilworth, NJ) inhalers and returned to work with the recommendation that he use a surgical mask while at work. His symptoms continued to progress, and he presented to us 2 months later, by which time he was experiencing single-flight dyspnea.\nThe patient’s past medical history was remarkable for hypertension, nasal polyps, and near syncope. He denied any previous diagnosis of asthma, allergy, hives, or anaphylaxis. His family history was remarkable for asthma in a sister and a paternal uncle. He denied use of alcohol, cigarettes, or illegal drugs and denied allergies to medications or environmental substances. He gave a history of chest tightness when he ate fruit such as banana, avocado, and kiwi. His occupational history was remarkable for work in the medical field (). On physical examination, he was a well-nourished, well-developed white male in no acute distress whose vital signs were within normal limits. His examination was remarkable for a body mass index of 30, hyperemic conjunctivae, boggy nasal mucosa, an erythematous urticarial rash on his right shoulder, and diffuse expiratory wheezing.\nLaboratory evaluation revealed a normal electrocardiogram. Chest X ray showed poor inspiration; CT of the chest showed mild bronchial wall thickening consistent with mild airways disease; pulmonary function tests (PFTs) were remarkable for mild obstruction with acute bronchodilator response (); and a radioallergoimmuno-absorbent assay (RAST) test for latex IgE antibody was negative. His peak expiratory flow rate (PEFR) diary during an 11-day work period and a subsequent 6-day vacation period showed significant improvement (20% in the morning, 22% in the evening) while he was away from work () and progressive improvement during successive days of vacation ().\nThe provision of a latex-safe environment was explored with hospital administration and deemed not feasible at that time. A full-face dual-cartridge respirator was recommended and tried in consultation with a certified industrial hygienist. However, it interfered with the patient’s ability to communicate, and he was unable to tolerate wearing it for an 8-hr day. We felt that he was at risk for potentially fatal anaphylaxis, as well as irreversible and impending structural damage to his lungs, given his long history of exposure and disease severity. In order to eliminate exposure to NRL, the patient was removed from the work-place. He was advised to avoid contact with latex, carry injectable epinephrine, and wear a MedicAlert bracelet (MedicAlert Foundation International, Turlock, CA). Despite removal from the workplace shortly after presentation, the patient’s pulmonary status did not improve. He is maintained on steroids and immunosuppressive agents and has not been able to return to work as a surgical pathologist. |
A 52-year-old female patient, sustained low back pain for 1 year with complaints of numbness in both lower extremities, underwent PLDF (Medtronic Sofamor Danek USA, Inc) bilaterally from L4 to S1 in September 2011 and got instant relief. 3 month postoperatively, however, the patient represented with low back pain. The increasingly severly deep aching pain had intensified over the next 5 months and ultimately gave rise to trouble walking accompanied by a mild sphincter disturbances before she’s review. This had been thought to be related to delayed postoperative infection. But, the patient had no fever and her physical examination was unremarkable other than a slightly swelling with tenderness over the operative region. Neither a high skin temperature nor flare was found. On the contrary, the incision scar had met a criterion of primary healing. Serial blood analysis showed erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and complete blood count with differential (CBC w/ diff) were within normal limits. X-ray films showed the slightly shifted internal fixators partially lost its function (Figure ), and computed tomography (CT) gave evidence of loosening and osteolysis (Figures and). Findings of magnetic resonance imaging (MRI) of the operative lumbar spine revealed topical swelling of soft tissue around the prosthesis and cloud sign of the adipose layer (Figure ). There was no diagnostic explanation for her pain. None of the clinic findings supported delayed postoperative infection. As no other cause for the low back pain (commonly named failed back surgery syndrome) could be identified, a quick decision was made to proceed with removal of the pedicle screw system.\nDuring surgery, the 6 pedicle screws were found to be very loose off the vertebrae and effortlessly removable, resulting to lost their fixation functon. No pus, caseous necrosis or tumor was found over the periprosthetic tissue. But a small granulation tissue was identified around the pedicle scerw in the L4/5 level and sent to biopsy along with a piece of bone from the L5/S1 intervertebral space. A predominance infiltration of lymphocytes with massive fibroblasts and neocapillaries was found in this specimen (Figure ), yet no evidence of infection. We still offered a postoperative treatment toward infection, including intravenous antibiotics application for 3 weeks and continuous antibiotic lavage and drainage for 25 days. Bacteria was not verified from the drainage culture, yet. The removal of pedicle screw system alleviated all the symptoms, especially the back pain, reduced to a lower level but persisted for a while.\nShe gave a clear history of skin sensitivity to metal for many years before receiving PLDF and was unable to wear a metal watch or ring. After PLDF, she did not notice rashes or irritation over the low back area, or any other skin reaction, and other clinical evidence of infection. |
Case 2. An 80-year-old man presented with haematuria. He had a history of two previous transurethral resections for a bladder tumour and benign prostatic hyperplasia. He had an ultrasound scan which revealed a small lesion on the right side of the urinary bladder. He had cystoscopy which showed a 1 cm lesion in the perimeatic area (around the internal urethral meatus) which was resected. Histological examination of the specimen showed encysted tubular structure which was lined with flattened cuboidal cells and the features were reported to be consistent with nephrogenic adenoma of the urinary bladder. The patient at the time of publication of the paper had been undergoing monitoring and his condition remained well.\nKuzaka et al. [] reported 3 cases of nephrogenic adenoma of the urinary bladder which were treated in their hospital between February 2011 and December 2012. They stated that all of the 3 patients had undergone previous open surgery. Two patients had had kidney transplantation. Visible haematuria and nonvisible haematuria were found in 2 patients. One patient had recurrent urinary tract infection. One patient had nephrogenic adenoma which was associated transitional cell carcinoma (TCC). The remaining two patients had nephrogenic adenoma of the bladder only. Kuzaka et al. [] also reported thatrecurrent nephrogenic adenomas were diagnosed in 2 patients and the time to disease relapse was 5 months and 9 months; all the nephrogenic adenomas and recurrent tumours were treated by means of transurethral resection.\nKuzaka et al. [] concluded thateven though nephrogenic adenoma is a benign metaplastic lesion of the urothelium, its recurrence rate is relatively high; hence careful and regular follow-up is necessary; endoscopic characteristics of nephrogenic adenoma are not specific and definite diagnosis must be made after histological analysis of resected specimens.\nFilly and Baskin [] reported a 16-year-old male patient who had visible haematuria and whose ultrasound scan showed multipapillary excrescences in the urinary bladder. When he was aged 4 years, he underwent bilateral reimplantation of ureters for recurrent urinary tract infections and vesicoureteric reflux. The kidneys showed calyceal dilatation of the infundibula or renal pelvis. There were no overlying cortical scars. He subsequently underwent cystoscopy which showed frond-like sessile lesions throughout the posterior and lateral walls of the urinary bladder. He had random biopsies of the bladder lesions and histological examination of the lesions confirmed nephrogenic adenoma as the underlying cause of the ultrasound scan findings. By the time of publication of the paper, he had had a 2-year follow-up during which there were 2 additional sporadic episodes of visible haematuria.\nPierre-Louis et al. [] reported 2 cases of nephrogenic adenoma of the urinary bladder as follows. |
The deceased donor was a 67-year-old man with a kidney Doppler ultrasound (DUS) that was negative for any nodular lesion. As part of the routine postoperative follow-up management, the recipient underwent DUS to assess the patency of the graft on postoperative day 1. The DUS finding was suspicious for an acute arterial thrombosis but did not reveal any focal irregularities. Consequently, a computed tomography (CT) scan was urgently obtained but it did not show any arterial complications. However, it serendipitously revealed a 2.4-cm lesion on the upper pole of the renal allograft which was not detected during the back-table or ultrasonography monitoring. A biopsy of the lesion was performed, and its histology revealed an epithelial proliferation of large cells with finely granular cytoplasm and medium round nucleus vesicular acidophilus, arranged tubules, and alveoli and cords immersed in a connective tissue stroma. This picture was consistent with oncocytoma. However, because the eosinophilic variant of chromophobe renal cell carcinoma (RCC) may morphologically resemble renal oncocytoma, immunohistochemical staining was performed using Ki-67 antibodies and RCC antigens. The results were negative, ruling out chromophobe RCC. The therapeutic options and potential related outcomes were clearly discussed with the patient. Given the low risk of malignant transformation in an oncocytoma [], we found no reason for resection of the lesion or an allograft nephrectomy. Consequently, we opted for active surveillance of the benign tumor with ultrasonography, every 2 months, for the first year and, then, with magnetic resonance imaging (MRI), every year (Fig. ). The patient received mycophenolate-mofetil, tacrolimus, and prednisone throughout the 5-year follow-up period and the regimen for immunosuppression was not changed despite the presence of the renal mass. After 60 months of active surveillance, we report that radiological studies have shown no growth, regression, or any other interim morphological changes to the lesion, and the patient is alive and well (Fig. ). |
We present a case of a five-year-old female who was diagnosed with Ebstein anomaly and right aortic arch prenatally at 20 weeks of gestation by fetal echocardiography. The pregnancy was conceived via in vitro fertilization by 37 years old nullipara woman. Up to 35 weeks of gestation, the mother of the patient used nadroparin and acetylsalicylic acid as a treatment for a thrombophilia with protein S deficiency. There was no other remarkable family history and all previous standard pregnancy follow ups were unremarkable.\nAs pregnancy was conceived via in vitro fertilization and thus regarded high risk, the woman was referred to our medical center (Children’s Clinical University Hospital in Riga, Latvia) for fetal echocardiography at 20 weeks of gestation, resulting in the diagnosis of Ebstein anomaly and right-sided aortic arch. The tricuspid valve was noted to be dysplastic and apically displaced with mild regurgitation. The size of the right ventricle was decreased, and aortic arch was coursing to the right of trachea (). Further follow-up visits were done once a month up to the delivery, with no remarkable changes in the condition.\nThe patient was born at 40 weeks of gestation in spontaneous vaginal delivery weighing 3450 g, having a length of 55 cm and an Apgar score of 9/9. At day 4, patient was transferred to our medical center for further evaluation. Physical exam revealed acrocyanosis and systolic murmur, findings of other organ systems were without any significant deviations from the norm.\nChest x-ray, electrocardiogram, Holter monitoring, transthoracic echocardiography, abdominal ultrasonography, neurosonography, karyotyping, and genetic testing for 22q11.2 deletion syndrome were done. Transthoracic echocardiography confirmed the prenatal diagnosis of Ebstein anomaly and right-sided aortic arch. The electrocardiogram showed a partial right bundle branch block. Other examinations and tests done were unremarkable. At day 11, patient was discharged home in an overall compensated state without any recommendations for pharmacotherapy.\nDuring the first six months of life, monthly follow up visits were done. The patient’s parents had no complaints and imaging studies did not show a significant progression of the condition. Further regular follow up visits with a pediatric cardiologist were done 1–2 times a year. The cardiac function in the first two years of life remained stable. Persistent oval foramen was observed, but it closed spontaneously at the age of three. Starting from the third year of life, progression of the condition was observed. At the age of four, due to progressive dilation of the right atrium and increasing regurgitation of the tricuspid valve, a magnetic resonance imaging was done to better assess the heart’s anatomy and aid in the consideration of the surgical treatment options. The magnetic resonance imaging showed that aortic arch and descending aorta in the mediastinum were located on the right side of the trachea in accordance with the previous diagnosis (see ). It also showed the tricuspid valve placed 23 mm apically from the mitral valve, moderate tricuspid regurgitation, and decreased ejection fracture of the right ventricle.\nAlthough karyotyping and genetic testing for 22q11.2 deletion syndrome (DiGeorge syndrome) were done right after birth and were normal, overtime, some physical, motor, and mental development delays were observed and thus additional evaluation by medical genetic was done. It revealed some external ear anomalies, significant growth retardation (both weight and height below 3rd percentile), which together with congenital heart defects warranted more detailed genetic testing. The genetic test results revealed mutation in the chromodomain helicase DNA binding protein 7 (CHD7) gene, which, together with clinical features, allowed to establish a diagnosis of Charge syndrome. |
A 68-year-old Korean man was referred by his dentist for intermittent bleeding and a dome-shaped overgrowing mass on his upper left alveolar ridge (Figure A). He underwent dental implantation on his upper first molar site 5 years ago, and regular curettage has been done for the treatment of recurrence of peri-implantitis (Figures D and E). Four years after his dental implantation, he had a cerebral infarction and was started on antithrombotic therapy with warfarin by a neurologist. After 6 months of warfarinization, he experienced intermittent gum bleeding and an overgrowing gingival mass in the implant site. Thus, the implant was removed by his dentist for fixture mobility at 5 months before visiting our clinic. However, the gingival mass has been gradually increasing, and spontaneous gingival bleeding was encountered, even after the removal of the implant fixture.An intra-oral examination of the patient revealed a firm dome-shaped mass on his upper left alveolar ridge, which is the site of previous implantation. Although the center of the lesion was bluish, which was probably due to discoloration from occlusion trauma, other parts of the mass showed a pink-colored smooth surface (Figure A). Magnetic resonance imaging showed a 1.5cm round nonhomogeneous lesion on his upper left alveolar ridge, which was most probably a benign vascular neoplasm (Figure B and C). The lesion was surgically excised under local anesthesia, and complete coagulation on the surgical bed was obtained with electrocauterization.\nHistology of the specimen revealed an ulcerated nodule and edematous granulation tissues under the epithelium of the tumor with numerous small blood vessels and neutrophil infiltration. The patient was diagnosed with PG (Figures A and B). The deeper part of the lesion showed numerous newly developed vessels filled with thrombi and their communications with delicate fibrillar connective tissues, indicating capillary hemangioma (Figures A, C and D). To confirm the characteristics of the tumor, the slides were immunostained with specific marker antibodies for endothelial cells, mesenchymal cells, and cell proliferation. For immunohistochemical analysis, tumor specimens were embedded in a paraffin block, cut into 4μm sections and mounted on glass slides. The sections were maintained at room temperature for 12 hours and deparaffinized. After hydration, immunohistochemical staining was conducted using an automated immunostainer (BenchMark XT, Ventana Medical Systems Inc., Tucson, AZ, USA). The primary antibodies used and immunohistochemical staining results are summarized in Table .Regarding immunostaining features, vascular endothelial cell and hematopoietic progenitor markers, CD31 and CD34, were strongly expressed in neovascularized endothelial cells of the hemangioma portion. However, in PG, CD31 was highly detected in the small blood vessels of the tumor, whereas CD34 was rarely expressed. The mesenchymal cell marker, vimentin, was strongly detected in both hemangioma and PG portions. The cell proliferation marker, Ki-67, was almost negative in the hemangioma portion, but it was moderately expressed in the fibroblast-like tumor cells of the PG portion (Figure ). According to these heterogeneous characteristics of the lesion, the patient was diagnosed with coexistence of PG and capillary hemangioma associated with the dental implant on the attached gingiva. The lesion has showed no recurrence or bleeding for more than a year. |
The proband is a 57-year-old Caucasian woman, born after an uncomplicated pregnancy to non-consanguineous healthy parents. The auxological parameters at birth were on the 50th percentile.\nDuring childhood and adolescence growth was normal until a final height of 165 cm was reached, consistent with the proband’s midparental target height (167 cm). Psychomotor development was normal. Menarche occurred at 14 years, and menses have always been regular until menopause, which occurred at 45 years after surgery for hysterectomy. The proband showed no hair growth from early childhood and this rapidly progressed to alopecia universalis (i.e., absence of eyebrows and, after puberty, absence of pubic and axillary hair).\nAfter the age of 15 years, the proband experienced several episodes of falls without loss of consciousness, but all neurological examinations performed (MRI, EMG and EEG) appeared normal. Echocardiogram revealed prolapse of both mitral valve leaflets and slight mitral regurgitation. After regular cardiologic follow-up, valve replacement was performed at the age of 45 years. Intraoperative findings revealed thickened mitral valve leaflets with the appearance of myxomatous degeneration, as confirmed by histological analysis. In the same year, the proband had a hysterectomy due to the presence of several fibroids, but the ovaries were preserved. Before surgery, she also suffered from a severe uterine prolapse.\nWe saw the proband for the first time at the age of 51, as she was referred to an endocrinology outpatient clinic because of hyperparathyroidism related to vitamin D deficiency. Endocrinology and genetic analyses were performed, with the aim of confirming a diagnosis of familial hyperparathyroidism based on the primary hyperparathyroidism of her mother. No germ-line mutations of the multiple endocrine neoplasia I (MEN1) gene were observed. Consequently, a diagnosis of tertiary hyperparathyroidism resulting from autonomous activity of the parathyroid glands, related to long-standing vitamin D deficiency, was raised. In addition, high levels of glycosylated haemoglobin (8%; reference range 4.5–6.5%) were observed, and the proband underwent metformin therapy. Bone mineral density evaluated by dual energy X-ray absorptiometry (Hologic) revealed vertebral and femoral osteoporosis (lumbar spine T score of −3.5 and femoral neck T score of −2.5), which was considered secondary to the endocrinological problems. There was no history of urolithiasis or nephrocalcinosis. Abdominal ultrasound analysis was normal, and only a nephroptosis of the right kidney was apparent. In addition, the proband’s mother referred a very high pain threshold in her daughter, who, for example, never required analgesia after surgery. The proband exhibited an important visual impairment characterised by severe astigmatism, cataracts and photophobia.\nPhysical examination revealed several craniofacial anomalies suggestive of a genetic disease: universal alopecia, deep-set eyes, bulbous pear-shaped nose, elongated philtrum, thin upper lip, high-arched palate, and large and prominent ears. The proband referred that her craniofacial dysmorphisms had been partially corrected by plastic surgery at the age of 43 years, particularly in the periorbital, maxillary, and mandibular areas, suggesting the presence of severe facial bone anomalies. However, we cannot confirm these information as she would not grant permission for us to see pre-surgery facial photographs and the surgery report was not available. Finally, she showed bilateral valgi and flat feet, and an anxious and obsessive psychological attitude. Cognitive function was not formally evaluated.\nThe observed clinical findings suggested a diagnosis of Trichorhinophalangeal syndrome. Therefore, a radiological study of the skeleton was performed; this revealed hypoplastic mandibular condyles and severe scoliosis. No abnormalities were observed in hands (Additional file : Figure S1), arms, legs and pelvis. At age 56 an infiltrating ductal carcinoma, sized 11 cm, was identified in the right breast, and was subsequently removed by mastectomy. Histological examination characterised the cancer as oestrogen-negative, and the proband is currently undergoing chemotherapy.\nThe proband does not accept the genetic basis for her condition, and denied permission to release her photos for publication.\nConventional cytogenetic analysis was performed on the proband and her healthy parents on QFQ-banded metaphases prepared from peripheral blood lymphocytes using standard procedures. The karyotypes were described in accordance with ISCN (2009) [].\nGenomic DNA was extracted from whole blood using the GenElute Blood Genomic DNA kit (Sigma-Aldrich, St. Louis, MO). Array CGH analysis was performed using the Human Genome CGH Microarray Kit 244 K (Agilent Technologies, Palo Alto, CA). From both test and normal reference samples, 3 μg of DNA were processed according to the manufacturer’s instructions. Images were captured using the Agilent Feature Extraction 9.1 software and chromosomal profile was acquired using the ADM-2 algorithm provided by DNA Analytics software (v4.0) (Agilent Technologies).\nFISH mapping of the bkps was performed using BAC clones, targeting the chromosomal bkp regions 2p16.1-p15 and 8q23.3-q24.1, as probes. The clones were provided by Invitrogen ltd (Carlsbad, CA, USA), and selected by consulting the UCSC Genome Browser Database (University of California Santa Cruz, reference genome assembly GRCh37/hg19) []. All BAC clone DNAs were labelled by nick-translation with Cy3-dUTP (GE Healthcare, Little Chalfont, Buckinghamshire, UK) and the FISH protocol described by Lichter and Cremer [] was followed, with minor modifications.\nThe 2p breakpoint was further narrowed down by means of three contiguous overlapping 15-kb long-range polymerase chain reaction (LR-PCR) products as probes (LRP I, II, III). The fragments were amplified by LR-PCR using the TaKaRa LA Taq™ kit (Takara Bio Inc., Shiga, Japan) using approximately 100 ng of BAC clone CTD-2562H20 as template, and then labelled by random priming (Prime-It Fluor Fluorescence labelling kit, Stratagene, Amsterdam, Netherlands). The primer pairs are shown in Additional file : Table S1.\nTo localize the breakpoints at nucleotide level, sequence-specific LR-PCR was carried out. Oligonucleotides and amplification conditions used to amplify the derivative chromosome der(2) and der(8) junction fragments are shown in Table and Additional file : Table S2. LR-PCRs were performed using the TaKaRa LA Taq™ kit (Takara Bio Inc.), and the resulting junction fragments were sequenced using the Big Dye® Terminator v.3.1 Cycle Sequencing kit (Applied Biosystems, Foster City, CA). Sequences were then aligned to the human reference genome sequence (human genome assembly GRCh37/hg19), analysed with the ChromasPro 1.5 software (Technelysium Pty Ltd., Tewantin QLD, Australia), and submitted to GenBank (). In-silico analysis of bkp regions was performed by consulting the UCSC Genome Browser and the VISTA Enhancer Browser Database [].\nThe entire coding sequence, intron-exon junctions and untranslated exons of the TRPS1 gene (RefSeq Accession: NM_014112.4) were amplified for mutation screening by PCR using the AmpliTaq Gold® kit (Applied Biosystems). The primer pairs and amplification conditions are summarized in Additional file : Table S3. Sequencing was performed as described before.\nStandard cytogenetic analysis revealed in the proband a de novo apparently balanced reciprocal chromosome translocation between the short arm of chromosome 2 and the long arm of chromosome 8 [t(2;8)(p15;q24.1)]. The proband’s parents had normal karyotypes. The subsequent high-resolution array CGH analysis excluded the presence in the proband of rare CNVs spanning the translocation bkp chromosomal bands or localized elsewhere in the genome.\nAs we hypothesized that the rearrangement was the main cause of the proband’s phenotype, we refined the bkps by FISH mapping. The chromosome 2 bkp was mapped at 2p16.1 (Figure a), within the region spanned by probe CTD-2562H20, and refined by CTD-2314I21 (GenBank accession number AC010479.5) (Figure b), whereas the chromosome 8 bkp was identified by the clone CTD-2176M10 (chr8:116,948,460-117,023,439) at 8q23.3 (Figure a,c). Therefore, based on BAC FISH data, the der(2) and der(8) bkps were mapped within a region of about 39 kb (chr2:59548766–59587488) and 7.5 kb (chr8:116978981–116986481), respectively (Figure e,f). The location of the 2p16.1 bkp was further narrowed down using three contiguous overlapping 15-kb LR-PCR products as FISH probes (LRP I, II, III) (Figure e). The LRP II produced weak but clear signals on both derivative chromosomes that were more intense on der(2), suggesting that the bkp was localized within the telomeric 7.5-kb fragment of LRP II target region (chr2:59563376–59570875) (Figure d,e).\nThe breakpoint junction fragments were then amplified and sequenced. Sequence alignments showed on der(2) the loss of two AA bases at position g.59,567,711_59,567,712, and the duplication of the ATAAGC hexamer at position g.59,567,716_59,567,721 (Figure a). Similarly, on der(8) a 2-bp GT deletion at position g.116,981,668_116,981,669, where the missing T is highly conserved [], was detected as well as a de novo 4 bp TATG insertion at position g.116,981,668_116,981,671 (Figure b), indicating that the rearrangement is not completely balanced. The 8q23.3 breakpoint was precisely located at position g.116,981,667_116,981,668 within the IVS10 of the long intergenic non-coding RNA (lincRNA) 536 (LINC00536, chr8:116,962,736-117,337,297), at approximately 300 kb from the TRPS1 5′ end (Figure c and Additional file : Figure S2B). The 2p16.1 breakpoint was localized at position g.59,567,710_59,567,711 within a 418-bp LINE sequence type 2 (L2a, chr2:59,567,631-59,568,048) (Additional file : Figure S2A). This bkp is flanked distally, at 1.1 Mb, by the FANCL (Fanconi anemia, complementation group L) gene, and proximally, at 1.1 Mb, by the BCL11A (B-cell CLL/lymphoma 11A) gene. In addition, about 25 kb distally to the der(2) bkp, we noticed the presence of the conserved non-coding element (CNE) (VISTA enhancer element hs836 at position chr2:59,540,641-59,541,193). Notably, this VISTA CNE showed a specific expression pattern in transgenic mouse embryos, demonstrating its activity in facial mesenchyme development (). As a result of the translocation, the enhancer sequence has been relocated to a new position, at approximately 325 kb from the TRPS1 5′ end (Figure c).\nAdditional mutations within TRPS1 were excluded in the proband by sequence analysis. |
A 35-year-old patient at Gravida 2, Para 1 was admitted to our Department at 21 wks because of an ache in the lower abdomen for 2 days. The previous CS was performed at a different hospital and we had no information about the used operation technique at 40 wks, as a consequence of the threatened asphyxia of the fetus, in 2010.\nThe first scan she had after the CS was when she missed menstruation. During this scan, an hypoechogenic irregular area was found in the mark from the CS ().\nConfirmation of an intrauterine pregnancy could not be made at that time, so the patient was informed of the existence of a “niche” and advised as to the laparoscopic repair of the scar tissue.\nUnfortunately, in the next scan, a pregnancy at 6 wks was confirmed. No “niche” was mentioned. The patient had a First Trimester Screening Program for chromosomal abnormalities at 12 wks, performed by a Fetal Medicine Foundation licensed obstetrician. No abnormalities were found. When she came for the second scan in this Program, she complained about cramps. In the scan, the LUS had thinned to 3.4 mm with dehiscence of the myometrium ().\nThe patient was admitted to our Department for observation and spent 5 weeks there (from 21 wks to 25 wks). After prophylactic steroid treatment for lung maturation, the patient departed the hospital on her own request. The dismissal scan showed an even thinner scar ().\nAt 36 weeks of gestation, the patient underwent a scheduled cesarean section, which was performed 7 years after previous surgery. The area of the scar (2.6 mm) was only covered by a thin layer of peritonea with a total dehiscence of the myometrium. The placenta was on the posterior wall of the corpus of the uterus. The uterus was sutured typically (double-layer continuous), and the patient came through the postoperative period well. |
A 12-year-old male patient visited the emergency department (ED) with a fever of 39.3 °C. Four months prior, he had undergone unrelated peripheral blood stem cell transplantation (uPBSCT) for acute lymphoblastic leukemia with central nervous system relapse. At the ED, his complete blood cell count showed neutropenia. Blood culture was drawn from his peripheral blood and from both lumens of the indwelling Hickman catheter. At 10 h after the blood cultures were drawn, both the peripheral and Hickman catheter blood cultures showed presumptive bacterial growth, later identified as K. pneumoniae. The differential time to positivity of the central and peripheral blood cultures was <1 h suggesting catheter-nonrelated bacteremia. He was administered susceptible intravenous antibiotics () for two weeks and successfully treated for the first episode of K. pneumoniae sepsis (a).\nThree weeks after the initial episode, the patient presented to the ED with fever, abdominal pain, diarrhea, and neutropenia. After peripheral and Hickman catheter blood cultures were drawn, he was initiated with piperacillin/tazobactam and amikacin immediately. Within 13 h, his peripheral blood culture showed presumptive bacterial growth, later identified as K. pneumoniae. As blood drawn from both lumens of the Hickman catheter were negative, he was treated for catheter-nonrelated bacteremia. The antibiotic susceptibility patterns of the K. pneumoniae cultured showed a different profile, compared to the K. pneumoniae isolated from the first episode (). Therefore, he was given an abdominal computed tomography to rule out any deep focal infection source; however, there were no abnormal findings. He was administered intravenous tigecycline for two weeks and successfully treated for his second episode of K. pneumoniae sepsis.\nFour weeks after the second episode, the patient experienced an acute onset of fever ≥39.5 °C. He immediately returned to the ED and was initiated with antibiotics after blood cultures were drawn. After 13 h, K. pneumoniae was cultured from his peripheral blood, and 19 h later, his central blood cultures were positive. He was treated for his third episode of catheter-nonrelated bacteremia.\nExactly 4 weeks after the third episode, the patient revisited the ED for a fever reaching 40 °C. Again, blood culture revealed catheter-nonrelated K. pneumoniae bacteremia. After initiating antibiotics for the fourth episode, the patient became afebrile and his general condition improved within 48 h. Immediate negative conversion of his blood cultures was observed at 24 h follow-up. However, within 96 h after negative conversion, his fever spiked to 39.7 °C, and his peripherally drawn blood cultures revealed a fifth episode of catheter-nonrelated K. pneumoniae bacteremia.\nA full physical examination revealed no rash, no abdominal tenderness, or any signs of focal infections. In order to find the source of K. pneumoniae causing recurrent sepsis, he was given echocardiography, revealing no vegetation or any other evidence of infective endocarditis. As he was neutropenic at all five episodes, the source was concluded to be bacterial translocation from his gastrointestinal tract during neutropenia. The patient was administered a prolonged 21-day course of susceptible antibiotics and was discharged.\nSeven weeks later, the patient visited the ED with a fever of 39.5 °C and no other symptoms. His CBC revealed no leukopenia or neutropenia, unlike the previous episodes (). The patient remained febrile for 5 days into the antibiotic treatment and repeated cultures revealed persistent bacteremia. He underwent a follow-up abdominal CT, ocular examination, and echocardiography, which all excluded any possible sources of infection. On the 6th day after fever onset, a full physical examination led to the discovery of a chemoport that had not been used since HSCT but had been undergoing routine function checks at the outpatient clinic every month. A chemoport needle was inserted into the injection port beneath the skin, and blood culture was drawn from the port. By this time, the peripheral blood and Hickman lumen blood cultures were negative for any bacteria. Then, 48 h after blood cultures were drawn from the chemoport, results came back positive for K. pneumoniae. Both central catheters were removed, and tip cultures from both central lines revealed that the chemoport tip was colonized with K. pneumoniae.\nIn order to understand the relationship between all six episodes of K. pneumoniae sepsis, an ERIC-PCR was performed on all the isolates from the six episodes. The ERIC-PCR bands showed that other than specimen 9 from episode 4, the exact same K. pneumoniae clone was the causative pathogen, and thus, the source was K. pneumoniae colonized at the tip of the chemoport (b). |
A 44-year-old man presented with an aggravating headache for 1 month. He had no past medical history. Neurologic examination showed cognition decline (Mini-Mental State Examination score, 20) and a slightly drowsy mentality. MRI with gadolinium enhancement (GdE) showed a large (9 cm in diameter) dumbbell-shaped mass that occupied both the anterior cranial fossa and the nasal cavity with strong heterogeneous enhancement and perilesional brain edema (). A brain CT scan showed bilateral erosion of cribriform plates (). The initial preliminary diagnosis was olfactory neuroblastoma, and transnasal endoscopic biopsy was done by a rhinologist (). The pathologic diagnosis was neuroendocrine carcinoma. Therefore, a whole body positron emission tomography CT and chest-abdomen CT was performed, but no specific findings were found in other sites.\nThe patient underwent a combined operation by a neurosurgeon and rhinologist. First, the neurosurgeon removed the intracranial tumor with a right subfrontal approach. The tumor tissue was firm to friable with a highly developed vasculature and a reddish-purple appearance. Because of the highly developed vasculature, bleeding was severe during the operation. After the intracranial mass was removed, a small defect in the ethmoid bone could be seen at the skull base. However, the defect was so small we did not perform skull base reconstruction, but instead added multiple layers of a fibrin sealant patch (tachosil). Following the gross total resection of the intracranial mass, the rhinologist performed transnasal endoscopic resection, and the mass was totally removed. One day after the operation, brain MRI with GdE showed the tumor was totally resected with no residual lesion ().\nThe pathologic finding indicated a tumor with a solid growth pattern and hemorrhage. The tumor was composed of epithelial and mesenchymal components in a neurofibrillary background (). The epithelial component consisted of stratified squamous epithelium with clear cell change and adenocarcinoma. The epithelial component was surrounded by immature neuroepithelial cells with a primitive blastema-like feature. The mesenchymal component consisted of malignant spindle cells with a myxoid stroma. From the immunohistochemical stain, the epithelial component showed strong positivity for cytokeratin (). The neuroepithelial cells were positive for chromogranin and synaptophysin. The final diagnosis was SNTCS.\nThe cognitive function of the patient improved after the operation. Postoperation 6 weeks later, adjuvant radiation therapy (60 Gy in 30 fractions) was administered. At the end of radiation therapy, a biopsy was performed in the otolaryngology outpatient clinic on the granulation tissue in the nasal cavity, and the pathologic report revealed recurred or remnant SNTCS. After radiation therapy, chemotherapy (AI protocol: doxorubicin+ifosfamide) was added and it is currently in process. Nine months after the surgery, a 7th chemotherapy has been completed. Brain MRI performed twice at 4 and 9 months after operation revealed no remnant or recurrent lesion. |
The propositus in this family (IV6) is a 45 year old Caucasian female who was diagnosed with LPD at the age of 24. Childhood was unremarkable for medical conditions, starting at the age of 17 she had recurrent episodes of prolonged abdominal pain with nausea and vomiting. During multiple admissions to the emergency department, abdominal X-rays showed repeatedly intestinal obstruction. No further investigation regarding the cause for this abdominal pain was undertaken until the age of 24. During an abdominal gynecological laparatomy -conducted because of recurrent abdominal pain and dysmenorrhoe- multiple polypoid pedunculated lesions on the large bowels were seen (see Figure ), biopsy was not carried out because the lesions were well vascularized. On surgical abdominal exploratory laparotomy about 50 fibromatous tumors were found and removed from the serosal surfaces, small and large bowels, omentum and from the uterus. Histopathological analysis of these tumors revealed benign spindle cell tumors, classified as leiomyoma. Electron microscopy showed peculiar nodules consisting of mature fibroblasts, abundant collagen with a few admixed myofibroblasts. At the age of 29 the patient had another episode of severe abdominal pain, nausea and vomiting and abdominal distension, partial small bowel obstruction was seen again on abdominal X-rays. The patient had no further episode of abdominal discomfort until now and presented to us for further evaluation with abdominal bloating and discomfort. Other recorded medical conditions include Raynaud's disease (diagnosed at the age of 19), Prurigo nodularis with lichenification of the skin (onset of symptoms in adolescence, see Figure ) and recently diagnosed postural orthostatic tachycardia syndrome (diagnosed at age 44).\nHer clinical exam of the abdomen revealed nothing except abdominal distension, no masses or tenderness were noted. Inspection of the skin revealed dry lichenificated skin on all extremities with prominent itching nodules (see Figure ). Laboratory findings were normal at admission.\nThe mother of the patient (III10) is now at age 82 and was diagnosed with Leiomyomatosis peritonealis disseminata at the age of 25. She also had recurrent episodes of severe prolonged abdominal pain and underwent exploratory laparotomy due to a ruptured appendix. Incidentally a large number of tumorous lesions was found, which were later on classified as leiomyomas. Interestingly this patient also was diagnosed with Raynaud's disease and has Prurigo nodularis-like skin lesions. The sister of this patient (III13) died at age 16 of peritonitis and sepsis. On post mortem examination intestinal obstruction due to multiple tumorous lesions was found as origin of peritonitis. Another brother (III17) died of peritonitis and gangrene of the bowels at the age of 20, resulting from intestinal obstruction of multiple pedunculated tumors (as reported by operating surgeon, 1939).\nThe grandfather (II3) of the propositus never was diagnosed LPD but has a past medical history of abdominal problems, including intestinal obstructions. Unfortunately no further information was available.\nThree more members of the family are affected by LPD and furthermore have been diagnosed with Raynaud's disease and show Prurigo nodularis with skin lichenification. All three patients (IV2, IV3, IV4) had abdominal problems (e.g. prolonged severe abdominal pain) in their late teenage years and underwent explorative laparotomy, which showed more than 50 tumors in every case. The receptor status for progesteron- and estrogen-receptors was negative in these three patients. Patient V1 is the 10 year old son of patient IV2 and already had a complete intestinal obstruction, on explorative laparotomy more than 100 pedunculated tumors have been found in the abdominal cavity.\nPatients IV5, IV7 and V2 reportedly have or had abdominal problems, but no confirmed diagnosis was available. No information on medical conditions, post mortem examinations or confirmed diagnoses was available for patients I1 and I2, grand-grandparents of the propositus (IV6). |
An 84-year-old Japanese male patient was referred to our hospital for detailed examination for gastric cancer diagnosed at a routine medical check-up. Upper endoscopy was performed and an approximately 5-cm wide type 1 tumor was detected in the cardiac region of the stomach (Fig. ).\nBiopsy showed moderately differentiated adenocarcinoma (tub2). No distant metastatic lesions were identified on enhanced abdominal computer tomography (CT) or chest CT. Laboratory data showed that tumor markers such as carcinoembryonic antigen (CEA) and carbohydrate antigen 19-9 (CA19-9) were within the normal limits. Accordingly, based on the Japanese gastric cancer treatment guideline [], total gastrectomy with D2 lymph node dissection was indicated. However, considering his older age, total gastrectomy with D1+ regional lymph node dissection was performed. The resected specimen revealed that the tumor was 48 × 28 mm in diameter. Histological examination showed moderately differentiated adenocarcinoma infiltrating the subserosa with metastasis to 1 of 37 regional lymph nodes (a lymph node along the short gastric artery was positive) and slight lymphatic invasion; however, no venous invasion was identified.\nAccording to the Japanese classification of gastric carcinoma 3rd English edition [], the patient was diagnosed with pT3N1M0, ly1, v0, and pStage IIB. Postoperative course was uneventful, and the patient was discharged on postoperative day 17. Adjuvant chemotherapy with oral TS-1 was recommended, according to the Japanese gastric cancer treatment guideline []. However, considering his older age, this regimen was not performed and the patient was followed-up in the outpatient clinic.\nThe patient was assessed according to the Japanese gastric cancer treatment guideline, which was comprised of routine physical examinations, measurements of serum tumor markers such as CEA and CA 19-9 (every three months during the 5 years after the surgery), thoracoabdominal computed tomography (every 6 months during the first 3 years after the surgery and once every 12 months from the fourth year onward), and upper endoscopy (1, 3, and 5 years after the surgery).\nEighteen months later, a 2-cm solitary hypodense lesion was detected in the spleen on CT, but serum tumor markers remained within the normal limits. Twenty-three months later, serum CEA elevated to 19.9, and an abdominal CT revealed that the splenic lesion increased in size to about 5 cm (Fig. ).\nSplenic metastasis was suspected, and 18F-2-deoxy-2-fluoro-glucose (FDG) positron emission tomography–CT (PET/CT) was scheduled to identify other metastatic sites besides the spleen. The PET-CT revealed intense FDG uptake in the spleen without involvement of other organs (Fig. ). Upper endoscopy and colonoscopy were also performed, and no abnormalities were identified.\nWe diagnosed the patient with solitary splenic metastatic tumor from gastric cancer and thought the splenectomy could be an effective treatment to eliminate the tumor even though his age was 86 at that time. Therefore, the splenectomy was performed 26 months after the first surgery.\nResected specimen showed a well-circumscribed, white, 57 × 51 mm in size, solid tumor located in the splenic parenchyma on cross-section. The tumor was demarcated from the splenic parenchyma without any capsule invasion (Fig. ). Histological examination revealed that the splenic tumor was a moderately differentiated adenocarcinoma, which was very similar to the primary gastric cancer. The immunohistochemistry result of both the gastric cancer and the splenic tumor showed positive for cytokeratin 7, CEA, and negative for cytokeratin 20, p53. These histological and immunochemical findings were consistent with primary gastric cancer and splenic tumor. Therefore, the lesion was diagnosed as metastasis from the previous gastric carcinoma.\nThe postoperative course was uneventful, and the patient was discharged on postoperative day 21 after the splenectomy. No chemotherapy was administered considering his age, and he was followed-up in the outpatient clinic. The patient remains well to date without recurrence and achieved 5 years of recurrence-free survival after splenectomy for solitary splenic metastatic lesion from gastric cancer. |
A 47-year-old Caucasian man, in good general health, presented to the family dental clinic, having observed a non-bleeding bluish lesion on the back of his tongue, during domiciliary dental care.\nThe intra-oral exam revealed a red/blue lesion on the tongue, presumably due to an ecchymotic area of traumatic origin (). Healthy periodontal conditions and no signs of hard nor soft tissue disease were detected.\nA detailed medical history was collected. The remote case history reported that the subject was born to term, his parents and the only brother were alive and healthy. No smoking habit; no hereditary or acquired pathologies, no drug therapies or blood transfusions were recorded; an unspecified allergy to nonsteroidal anti-inflammatory drugs, as well as the occasional appearance of traumatic lesions on oral mucosa, attributed to patient’s habit of eating quickly and voraciously, were referred. In the recent medical history, the occurrence of cough lasted about a week and treated with expectorants and thinners, was the only relevant fact preceding the appearance of the oral lesions was. Since no further signs of oral disease were evident and the patient did not refer other symptoms nor systemic diseases, the patient was discharged, and soft diet, careful oral hygiene and chlorhexidine-based mouthwash were prescribed.\nThe day after, the patient visited the family dental clinicagain, since, upon awakening, he presented with an increase in the number of oral mucosal lesions. The oral exam revealed gingivorrhagia, a bleeding lesion at the apex of the tongue as well as other ecchymotic-type lesions on the mucous membranes of the cheeks and the upper lip ().\nThe body physical exam highlighted the presence of petechiae on the back and the scalp, on the lower limbs and on the back of the feet,().\nBlood exams were prescribed, but in the next few hours, the clinical conditions suddenly deteriorated, requiring immediate hospitalization with a diagnosis of suspected purpura. The patient was hospitalized in fairly general clinical conditions, with a blood pressure of 125/75 mmHg, and with a blood count showing a very severe thrombocytopenia ().\nUpon admission, the patient underwent a complete medical assessment with oral, dermatological and hematological evaluations. At the physical examination, the patient presented: petechiae and bruises in the oral cavity; petechiae in the lower and upper limbs, in the trunk and in the scalp; negative chest; painless and treatable abdomen; hypochondriac organs within the limits; absence of lymphadenopathies; hematuria.\nPrednisone (75 mg × 3 administrations) and an intravenous Ig infusion (30 g × 5 days, 0.4 g/kg) were administered.\nThe day after the hospitalization, additional evaluations were carried out, which are described below along with the reported findings. A chest radiograph revealed a modest accentuation of the pulmonary texture on a hyperdiaphanous background, without evidence of infiltrative parenchymal lesions in progress, regular diaphragm in the profile, with free costophrenic sinuses, cardiac volume within limits. Electrocardiogram and cardiac enzymes were normal, with a blood pressure of 120/70 mmHg, a heart rate of 70 bpm and an oxygen saturation of 98%. The blood count, instead, showed values similar to the previous day.\nHydrocortisone (100 mg per day), antihistamine and gastric protector were added to the administration.\nOn the third day of hospitalization, the general clinical conditions improved and the platelet count roseto 34,000 per mm3. The oral exam also revealed an improvement of the mucosal lesions and the absence of spontaneous bleeding. At the physical body exam, the chest was always negative, the abdomen painless and treatable, with the liver at about 2 cm and the spleen at 1 cm from the rib arch, respectively. The abdominal ultrasound showed: physiological epatic and splenic sizes and echostructures, distended gallbladder, non-dilated intra and extra practical biliary tracts, normal caliber and course of the splenoportal axis and absence of lumbar aortic lymphadenopathy.\nHydrocortisone (100 mg per day), antihistamine and gastric protector were administered similarly to the previous day.\nOn the fourth day of hospitalization, a further regression of the oral lesions and disappearance of the hematuria were observed, along with negative chest, treatable abdomen, blood pressure and heart rate were normal.\nThe patient was discharged in good health on the fifth day, with a diagnosis of acute ITP and a hydrocortisone (100 mg per day) prescription. A complete recovery was achieved in the next few days (). |
A 23-year-old male patient with a healthy medical record demonstrated a pelvic mass by ultrasonography during routine examination. During his hospitalization, a large mass which is 4 cm to the anus was found by rectal examination; no abnormal laboratory results were revealed. After the ultrasonic examination of pelvis, a 6.2 × 6.0 cm hypoechoic and uneven mass was found in the pelvic cavity (), and an abnormal signal and a 5.2 × 6.9 cm hypervascular mass were revealed by magnetic resonance (MR) examination in the rectum and sacrum gap. In the MR examination, the mass showed equal signal in T1WI, line-like low signal and separation with central low signal fiber composition in T2WI, and uneven slightly limited signal in diffusion-weighted imaging. In the enhanced image, the mass was strengthened obviously except the central fiber composition. The margin of the lump was clear, with limited surrounding structures, and the rectum was pressed forward (). Pathological puncture was performed immediately. An experienced pathologist reported reactive hyperplasia of lymph nodes and vitreous vascular Castleman’s disease.\nTaking into account the tumor blood supply, embolization under digital subtraction angiography (DSA) was performed on the artery of the pelvic tumor. Angiography of bilateral iliac artery branches showed a round tumor staining shadow. 5 mg dexamethasone, 60 mg epirubicin and a bottle of gelatin sponge (710–1000μm) were injected. The branch of internal iliac arteries blood flow blocking was effective when a second angiography was performed (). Resection of anterior rectal and terminal ileal stroma was performed under general anesthesia 7 days after the embolization. After entering the abdominal cavity by a median incision of the lower abdomen, a 4 × 5 × 4 cm3 medium-texture mass (with numerous nourishing vessels from anterior sacral space in the mesentery of the posterior rectal wall) was found. No enlarged lymph nodes were observed in the surrounding mesentery.\nThe postoperative gross specimen () showed a tumor situated in the mesentery of the posterior rectal wall 3 cm from the upper and lower resection margins, respectively. The tumor had a diameter of 6 cm with medium, solid and hoar-frost appearance on the surface. Six lymph nodes were found in the mesorectum, with diameters ranging between 0.3 and 1.0 cm. Pathology of the biopsy () confirmed that the mass around the rectum was lymph node with complete structure. Lymphoid follicular hyperplasia of different sizes was seen by microscope, and vitreous blood-vessel fibrous tissue could be seen in the stroma. No obvious change was seen in the rectum. Many vitreous blood vessels were found in the lymph nodes within the mesorectum. Immunohistochemistry results were CD20 (focal +), CD19 (focal +), Bob.1 (focal +), CD3 (partial +), CD5 (partial +), Bcl-2 (partial +), Bcl-6 (+), CD10 (a small amount of focal +), Muml (partial +), CD38 (partial +), CD30 (-), CD34 (vascular +), Ki-67 (+) and PSA (-). According to the clinical symptoms and postoperative pathological and immunohistochemical results, the patient’s diagnosis was Castleman’s disease of pelvic lymph node (mixed type, mainly hyaline vascular type). |
A 70-year-old woman presented in November 2017 to the Emergency Department at Skåne University Hospital, Sweden, due to the rapid onset of fever, shivers, and a suspected skin infection. She had a previous medical history of left-sided ductal breast cancer with lymph node involvement in 1999, which was treated chronologically with neoadjuvant chemotherapy, partial mastectomy, axillary lymph node dissection, and radiation therapy. In addition, in 2001, a right-sided localised ductal breast cancer in situ was identified and was treated surgically with a partial mastectomy. Secondary to her lymph node dissection, she developed lymphoedema of her left arm, which had been continuously treated with compression stockings. The patient was on treatment with an ACE inhibitor and a beta-blocker due to hypertension, and in addition, she had a known systolic murmur, characterized as physiological, as transthoracic echocardiographs in 2011 and 2017 were normal. Since her surgery in 1999, on a total of six occasions prior to her last and seventh visit, of which the first episode occurred in 2008, she had been treated for erysipelas in her left upper arm. The presentation had always been sudden with spiking fever and erythema spreading in approximately the same localisation. Interestingly, on all three out of the three occasions where a blood culture has been drawn on presentation with erysipelas, the cultures have shown growth of a bacterium belonging to the S. mitis group. These first two isolates also had similar MIC values for penicillin of 0.064 and 0.125 mg/L, for vancomycin of 0.25 and 0.5 mg/L, and for gentamicin of 2 and 2 mg/L (). In addition, they were both sensitive to clindamycin.\nOn the present visit, she once again had a sharply demarcated, warm, swollen, and painful erythema measuring approximately 7 × 15 cm in the lymphoedematous area on her left upper arm. No local portal of bacterial entry was found. Vital parameters showed a temperature of 38.0°C, respiratory rate of 16 breaths/min, O2 saturation of 96% on room air, heart rate of 80 beats/min, and blood pressure of 120/70 mmHg. On physical examination, a grade II systolic murmur was heard with punctum maximum I2 dexter. She had no signs of septic emboli, oral examination showed no signs of infection, and examination of lymph nodes was normal. Possibly due to her quick presentation, that is, less than 6 hours from the onset of symptoms, her laboratory results were normal with a white blood cell count of 8.4 ∗ 109/L, platelets of 263 ∗ 109/L, and hemoglobin of 147 g/L. Her CRP was 12 mg/L. She was clinically diagnosed with erysipelas, and due to previous bacteraemia with the S. mitis group in relation to erysipelas and the presence of a systolic murmur, blood cultures were drawn and she was treated with one dose of intravenous penicillin (3g≈5 million IU) followed by an oral penicillin (1g≈1.6 million IU) three times daily, for seven days. Once again, now for the third time, the two blood cultures showed growth of a bacterium belonging to the S. mitis group. The MIC value for penicillin was 0.125 mg/L, for vancomycin 1 mg/L, and for gentamicin 16 mg/L (). Similar to the two previous isolates, it was also sensitive to clindamycin. Her treatment was prolonged for 10 days, and a follow-up visit was arranged. Repeat blood cultures were drawn 14 days after discontinuation of antibiotics and they were negative. To prevent further infections, she has once again been referred to the lymphoedema outpatient clinic as well as to the dentist office. On follow-up, thereafter, the patient had no sequelae to her infection, and she gave informed consent for this case report to be published.\nThe three blood isolates, one analysed in 2015 and two in 2017 (15 and 8 months apart), were initially subgrouped to S. mitis/S. oralis/S. pseudopneumoniae of the S. mitis group by combining the MALDI-TOF MS results (MALDI Biotyper, Bruker) with the information that the three stains were resistant to optochin. To allow a more detailed comparison, the three stored isolates were reanalysed and now ethanol/formic acid extractions were performed on the strains, and the updated and improved Bruker MALDI Biotyper database (DB-7311 MSP Library) was used for the MALDI Biotyper analysis. In addition to the standard log (score), weighted list (scores) was also calculated []. S. mitis was the best match for both the first and second isolates when both log (score) and list (score) were calculated. For the third isolate, the best match was S. oralis for both types of scores (). Next, the mass spectra of the three isolates were inspected manually. All three strains showed the specific peak 6839.1 m/z which is associated with S mitis and S. oralis strains, but only the third isolate showed the specific peak 5822.5 m/z which is associated with S. oralis () []. In addition, no peak profiles typical for S. pneumoniae and S. pseudopneumoniae could be detected in the three isolates [, ]. These results further support that the first two isolates are S. mitis and the third isolate is S. oralis. Many differences were seen in the mass spectra of the third isolate (S. oralis) compared to the first two (S. mitis). On the other hand, no clear differences in the spectra between the first and second isolate could be seen, and one can therefore not exclude that they belong to the same clone. |
A 58-year-old Haitian female with known history of hypertension was admitted for severe bilateral lower extremity weakness. CT scan of the thoracolumbar spine revealed severe kyphosis of T10-T11 secondary to anterior collapse of the T11 vertebral body. She received intravenous steroids and was evaluated for surgical intervention. She eventually underwent T11 corpectomy, fusion of T10-T12, implantation of biomechanical device at T11, anterior instrumentation of T10-12, and posterolateral fusion of T8-L3. Bone biopsy revealed evidence of osteomyelitis. She was started on a 42-day course of antibiotics. After surgery, she was noted to be increasingly lethargic and confused. Rapid response was called when she developed a complex partial seizure with secondary generalization. The seizure was terminated upon administration of intravenous Ativan. She was given a 1500 mg loading dose of Keppra followed by 500 mg twice daily maintenance dose. EKG monitoring during the seizure episode revealed sinus bradycardia, which eventually progressed to a 10-second sinus pause, approximately 20 seconds after seizure onset (). She had 2 more similar seizure episodes during the same day. In each seizure episode, she would develop sinus bradycardia, followed by sinus pauses a few seconds after seizure onset. Interictal EKGs revealed normal sinus rhythm. She was started on a dopamine infusion and transferred to the ICU. EEG revealed periodic lateralized epileptiform discharges and a single seizure emanating from the right posterior temporal region (). The seizure observed during the EEG focally originated from the T6 area and then had secondary generalization. It lasted around 75 seconds and clinically manifested as blank staring. MRI revealed a large area of gyral edema, sulcal effacement, and cortically based diffusion restriction involving the right occipital lobe and right posterior temporal and parietal lobes (). Lumbar tap revealed normal findings. She did not have any further seizure episodes. On the succeeding hospital day, she underwent DDD pacemaker insertion and did not develop any more pauses. Repeat EEG revealed no lateralizing or epileptiform discharges. Her prolonged hospital course was complicated by hemorrhagic pleural effusion, venous air embolism after central line removal, and surgical site infection. These complications were treated accordingly. She was discharged to an acute rehabilitation facility after 26 days of hospital stay. |
A 72-year-old male patient was diagnosed with wet AMD in his left eye. Best corrected visual acuity (BCVA) in his left eye was 0.3. Optical coherence tomography (OCT) revealed CNV with subretinal fluid. Fluorescein angiography showed occult CNV in his left eye. The patient was put on anti-VEGF treatment with aflibercept (Eylea) every 4 weeks. Four days after the second injection he experienced a sudden drop in his visual acuity to the level of 0.05. An additional OCT examination was done and revealed a full-thickness MH located in the center of the macula on the CNV. The anti-VEGF treatment was stopped and the patient was referred to a vitreoretinal surgeon for surgical consultation.\nOn examination by the vitreoretinal surgeon the right eye had 1.0 BCVA. Intraocular pressure was 14 mm Hg. Anterior segment changes were not clinically significant. The retina in the right eye was attached with no changes in periphery. OCT showed minor changes in right macula (small drusen only), and CNV was not present. No fluorescent angiography was performed at that point. BCVA in the patient's left eye was 0.05. Intraocular pressure was 15 mm Hg. Anterior segment examination showed minor nuclear cataract. The retina was attached with no changes in periphery. On OCT examination CNV accompanied by MH was seen. The diameter of the MH measured on OCT was 420 µm (Fig. ).\nIt was obvious that the drop in BCVA in the left eye was due to the full-thickness MH formation. It was discussed with the patient that both wet AMD and MH require entirely different treatment approaches. It was decided to first operate on the MH and later continue the CNV treatment with anti-VEGF injections.\nDue to the legal requirements in Poland (government reimbursement of surgical procedures), a cataract surgery followed by 23-gauge vitrectomy was performed. The vitrectomy was done in a typical way. The internal limiting membrane (ILM) was stained with Membrane Dual and peeled broadly up to the temporal vessel arcades; 20% SF6 tamponade was used. Anti-VEGF treatment was not used at the time of the surgery. The patient was advised not to “raise his face to the ceiling” and no typical face down position was required. The MH was closed (Fig. ). Visual acuity assessed 1 month after the surgery improved to 0.2.\nThe patient was followed closely after the surgery and the first anti-VEGF injection was given 4 weeks after surgery. Further therapy with Eylea was scheduled every 8 weeks. Between January 2017 and March 2018 he was given a total of 9 Eylea injections and BCVA in his left eye remained at 0.2. |
A 37-year-old woman presented to the emergency department after being ejected from an all-terrain vehicle while unhelmeted. At the time of presentation, she was hemodynamically unstable due to extra-corporeal blood loss from scalp degloving. Other injuries included a left temporal bone fracture, skull base fractures, and a thoracic 6 compression fracture. She was asymptomatic from a neurosurgical standpoint and had no known history of malignancy. Her neurological examination was unremarkable.\nThe initial CT spine scan demonstrated a cervical 7 vertebral body fracture and bilateral laminar fractures. An incidental C6/7 left facet osteolytic mass was also found; the mass abutted the transverse foramen without evidence of invasion (Figure ). MRI revealed a heterogenous contrast-enhancing extradural mass originating in the left cervical 6 and 7 facet joint with extension into the soft tissues of the neck and epidural space without cord compression. The mass encircled the left vertebral artery (Figure ). CT angiography (CTA) of the neck showed a dominant left vertebral artery. A metastatic workup was negative.\nInitial management\nThe patient first underwent surgical repair for scalp avulsion and degloving without complication. On our assessment, we deemed the cervical spine unstable due to the two-level facet destruction from the mass. We planned for surgical stabilization, fusion, and debulking of the tumor with the extent of resection to be based on intraoperative pathology.\nIntervention\nA cervical 6 to 7 laminectomy, with cervical 4 to thoracic 2 posterior instrumented fusion, and tumor debulking was performed. Tumor biopsy samples were sent to pathology for assessment. Intraoperative pathology was inconclusive with concern for possible plasmacytoma or melanoma. We resected the majority of the tumor, while a small portion that was deep and adjacent to the vertebra was left behind. This portion of the tumor was separated away from the neural elements. Biopsy samples were sent out from our institution for further pathological assessment. Figure shows the postoperative MRI. The patient was discharged home on postoperative day four with cervical and lumbar braces, with a plan to follow up in the clinic for assessment. The pathological report revealed TGCT (see Pathology section below).\nFollow-up\nAnterior/posterior and lateral cervicothoracic X-ray at the one- and two-month follow-ups showed good hardware position from C4 to T2. The patient had a normal physical exam and was neurologically intact. Updated cervical MRI at the three-month follow-up showed residual tumor growth and plans were made to discuss treatment at the interdepartmental tumor board.\nPathology\nImmunostaining of intraoperative tumor samples revealed lymphohistiocytic infiltration, multinucleated giant cells with pigment-laden macrophages, mononuclear infiltrate, and positive CD64 and CD45 staining (Figure ). Several weeks later, the final pathology confirmed the diagnosis of TGCT, diffuse type.\nSecond operation\nThe patient’s case was presented at our inter-departmental tumor board. Due to the locally aggressive nature of diffuse-type giant cell tumors overall, we elected to conduct a second operation with the goal of total resection of the tumor to be followed by postoperative radiation. Preoperative planning included a balloon test occlusion of the left vertebral artery in the event the vertebral artery needed to be sacrificed or was injured during the operation. The patient failed the balloon test occlusion and the dominant status of the left vertebral artery was confirmed.\nAfter prepping the posterior cervical region, the previous incision was open with a scalpel down to the fascia. The paraspinous muscle was dissected off the spinous process, lamina, and facet joints on the left side. The previous C4 to T2 rod was identified and the locking caps and rod removed. We then removed the screws at C5 and T1, allowing us to easily identify the recurrent tumor. The tumor was found to be epidural in nature and exited along the cervical 7 and 8 nerve roots. The tumor was carefully dissected from the lateral thecal sac, exiting nerve roots at C7 and C8, and the vertebral artery. Gross total resection was achieved. Figure shows a postoperative MRI.\nDespite the initial plan for postoperative radiation, the patient was lost to follow-up for an extended period of time. The patient returned to the clinic after 2.5 years with minor residual numbness in the left 5th digit. MRI at this time showed recurrence at the operative site. CT scan was performed and showed no evidence for bony destruction. Our interdepartmental tumor board reviewed the case and recommended serial imaging. |
A previously healthy 6-year-old boy presented to a pediatric hospital with a 3-week history of torticollis. He had symptoms of an upper respiratory tract infection four weeks prior and had 2 days of documented fever at home during that time. He had been treated with a 7-day course of amoxicillin by the primary care physician for suspected streptococcal pharyngitis. Four days into the course of antibiotics, he woke up from sleep with pain on the left side of his neck. Despite taking ibuprofen and acetaminophen, he presented to the Emergency Department 3 weeks later due to persisting torticollis. Pain was worse with movement. There was no history of head/neck trauma. At the time of presentation, the infectious symptoms had resolved. Some fatigue was noted but he remained generally active, continuing to play hockey. There was no history of rash, peripheral joint pain, or weight loss. Past medical history and family history were unremarkable.\nOn examination, the patient was afebrile with normal blood pressure for age and a maximum heart rate of 110 beats per minute. The patient's head was tilted to the right with chin rotation to the left. No lymphadenopathy or masses were noted on palpation of the neck. There was no tenderness to palpation of bilateral sternocleidomastoid muscles. There was a limited range of motion in all planes of rotation of the neck secondary to pain, particularly in lateral flexion. Bilateral injected conjunctivas were present. The oropharynx was normal with no erythema or mucus membrane changes. Cardiovascular exam revealed normal peripheral pulses, a quiet precordium with normal heart sounds, and no murmur. Respiratory exam was normal. The abdomen was soft with no distension, tenderness, or hepatosplenomegaly. There were no bruits heard on auscultation of major vessel regions. There were no rashes or desquamation of the skin. Neurological exam was normal.\nAt the time of presentation, laboratory investigations revealed an elevated white blood cell count of 17.4 × 109/L with a neutrophil count of 14.1 × 109/L. Hemoglobin was normal for age at 110 g/L. Inflammatory markers were elevated including platelet count of 860 × 109/L and CRP of 38.5 mg/L. Renal function (BUN and creatinine) and liver function (ALP and ALT) were normal for age. Because of the unexplained elevated white blood cell count and evidence of inflammation, a chest X-ray was performed which revealed normal lung fields but an enlarged cardiac silhouette. X-ray of the cervical spine was normal with no atlantoaxial rotary subluxation demonstrated. Ultrasound of the neck revealed mild thickening of the left sternocleidomastoid muscle and no lymphadenopathy. Abdominal ultrasound with Doppler was normal.\nAdditional investigations included a normal throat swab for group A streptococci and a negative anti-streptolysin O antibody titer. High-sensitivity troponin was elevated to 176 ng/L. Creatinine kinase was normal. ANCA was normal. Electrocardiogram showed normal sinus rhythms without evidence of chamber hypertrophy. The patient underwent an echocardiogram to further characterize the enlarged cardiac silhouette identified on the chest X-ray. This revealed massive ectasia and aneurysmal dilatation of the right coronary artery, left main artery, left anterior descending artery, and circumflex arteries, as seen in . Left ventricular function was normal. The aortic arch was normal as were the proximal neck vessels.\nBecause of the dilated coronary aneurysms, the patient was diagnosed with KD. Despite lack of fever, given the evidence of ongoing inflammation and initial presence of bilateral nonsuppurative conjunctivitis, in addition to the coronary artery changes, the patient was treated with high-dose IVIG (2 g/kg) and started on daily low-dose aspirin. Low-molecular-weight heparin was started as antithrombotic therapy and once stabilized, daily atenolol was initiated. Activity was restricted as much as possible.\nInflammatory markers were followed. Platelets revealed a peak of 952 × 109/L and CRP a peak of 54.6 mg/L. After treatment, both platelet and CRP levels normalized.\nThe patient's neck pain and the limited range of movement resolved immediately after treatment, as did the bilateral conjunctivitis. The patient was stable and appeared well at time of discharge. His aspirin, low-molecular-weight heparin, and atenolol were continued. The CT angiogram performed after discharge revealed massively dilated and aneurysmal coronary arteries, as shown in .\nIn follow-up cardiology and rheumatology clinics, he has been doing well with no further neck pain or stiffness. He did not develop desquamation during follow-up, and the repeat echocardiogram one month after discharge was unchanged. He will continue long-term anticoagulation therapy with low-dose heparin with a target level greater than 0.5 IU/ml. He will also continue low dose aspirin and atenolol. His family was advised to have the annual influenza vaccine. |
A 73-year-old female with a history of MM presented to the emergency department with progressive slurred speech due to a rightward deviated tongue for 4 days. These symptoms were not associated with vision loss or weakness. Physical exam demonstrated overt right-sided tongue deviation, with no other focal neurologic deficits. The patient endorsed a history of MM diagnosis in the past but underwent only a few chemotherapy treatments due to her religious beliefs as a Jehovah’s Witness and was generally not receiving regular medical care. Given the patient’s history of MM, a code stroke was initiated for suspected hyperviscosity syndrome as the cause of the stroke. She received a computed tomography (CT) of her head, which revealed marrow abnormalities specifically in the calvarium consistent with advanced MM, but no clear areas of ischemic or hemorrhagic strokes. The clinicians decided to further pursue a magnetic resonance angiogram (MRA) of her brain, which revealed a patent circle of Willis with no occlusions. After obtaining more collateral information, it was revealed the patient was diagnosed with MM in 2008, and was found at that time to have 20% plasma cells in her marrow. She received several cycles of chemotherapy at that time but chose not to continue therapy. In 2010, she received radiation for two plasmacytomas that formed in the epidural space but had limited follow-up or further treatment thereafter.\nOn further evaluation, the patient was found to have hypercalcemia with a level of 12.1 mg/dL (14 taking into account correction for hypoalbuminemia), anemia with a hemoglobin level of 6.5 mg/dL, and kidney failure with a creatinine level of 4.7. She also had a β2 microglobulin level greater than 10 mg/L consistent with stage III MM per Durie-Salmon criteria. Hemodialysis and chemotherapy were offered to the patient; however, the patient refused. Serum viscosity levels were found to be within normal limits. Serum immunofixation demonstrated that the free lambda clone was present, with no corresponding IgG, IgA or IgM heavy chains, clarifying that she had light chain myeloma.\nThe skeletal survey seen in demonstrated the significant progression of her disease, especially near the skull base. Magnetic resonance imaging (MRI) of her brain, seen in , revealed that the patient had myelomatous lesions at the right occipital condyle and clivus consistent with MM disease advancement. The cause of her dysarthria was concluded to be hypoglossal nerve mononeuropathy, due to impingement as the nerve courses through the hypoglossal canal, located at the base of the right occipital condyle. Although the patient did understand that all of her conditions stemmed from poorly controlled disease, she did not desire to pursue further chemotherapy or receive blood transfusions at the time. |
A 42-year-old male presented with acute onset of symptoms of aggressive behavior, difficulty in sleeping, self-muttering, severe and diffuse leg pain for the past 3 days. The patient accepted that he could hear the voices of his demised father and grandfather. He would hear these voices 8–10 times throughout the day, from outer objective space. The patient had a history of opioid dependence and was treated with tablet tramadol. However, he continued to use tablet tramadol 50 mg, 5–10 tablets per day in a dependent fashion continuously for the last 3 years, and the last dose was 36–48 h before onset of current complaints. There is no history of delirium or seizure and no history of psychiatric illness. General physical examination and neurological examination were within normal limits. Mental status examination revealed second-person auditory hallucinations, and higher mental functions were within normal limits and absent insight. All routine blood investigations and contrast-enhanced computed tomography of the head were within normal limit.\nUrine screening with poly-kit for substance was positive for tramadol (>100 ng/ml). However, it was negative for benzodiazepines and cannabis. Baseline clinical opiate withdrawal scale (COWS)[] score was 19 and subjective opiate withdrawal scale[] was 30. The patient was managed for opioid withdrawal with tablet clonidine, benzodiazepines, and painkillers and the COWS score came down to 6 within a week. Auditory hallucination disappeared completely in 2 weeks of abstinence. Naranjo scale for causality assessment score came out to be 9 which suggests a definite correlation.[] The patient is coming for follow-up and maintaining abstinent from tramadol and free from auditory hallucination.\nSince tramadol binds to opioid μ-receptors, it is expected that its cessation after chronic use causes withdrawal symptoms and signs like the other opioid drugs. However, there are instances in which tramadol withdrawal symptoms are similar to serotonin reuptake inhibitor withdrawal symptoms.[] This has a direct correlation to tramadol's mechanism of action as a serotonin and norepinephrine reuptake blocker, which explains the auditory hallucinations in the index case.\nIndex case was managed without use of antipsychotic which is similar to another case report[] but contrary to the case report by Lakhal et al.[] Hence, atypical withdrawal of tramadol can appear in the form of psychosis, and one should manage such patients solely by treating the opioid withdrawal and do not require the addition of an antipsychotic.\nThe authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.\nNil.\nThere are no conflicts of interest. |
The patient is a 50-year-old African American female with a history of bilateral breast reduction twelve years ago, iron deficiency anemia, and obesity, who presented to the surgeon's office complaining of tenderness of her right breast. The patient reported that recently she had been developing keloids along the scar of the right breast with some areas having a blue hue; her left breast was unremarkable. She noticed that after wearing a sports bra there was increased pressure and abrasions to the keloid, leading to cellulitis and edema. She was previously treated with two courses of antibiotics for what was presumed to be an infected keloidal scar of her right breast but with minimal improvement. On exam, she had a large 10 cm diameter keloidal region on the inferior and lateral aspect of the right breast with edema and cellulitis. The keloidal area had no palpable fluctuance; she exhibited no nipple discharge or palpable adenopathy of the right axilla ().\nThe patient had a benign-appearing mammogram 8 months prior, and all of her screening mammograms since her breast reduction have been without signs of malignancy. Another mammogram was ordered but was not performed due to patient discomfort. An ultrasound of the breast was preformed and suggested marked edema and skin thickening suggestive of infection but no definitive fluid collection or underlying suspicious mass was observed.\nThe patient underwent a right breast partial mastectomy for cosmesis and resection of the infected keloidal area. Intraoperatively, the mass was highly vascular, firm, but not fixed to the chest wall. Postoperatively, the pathology revealed a high-grade primary angiosarcoma of the breast with negative margins.\nPatient underwent a computed tomography of the chest, abdomen, and pelvis, which did not show any evidence of gross metastatic disease. The patient then underwent completion mastectomy and scheduled for adjuvant chemotherapy with combination gemcitabine and Taxotere, followed by radiation. |
A 69-year-old woman with a two-year history of dizziness and headache was admitted to our hospital after experiencing a generalized tonic clonic seizure. Her clinical examination was normal. She had no history of head trauma. However, six years previously she had undergone a right suboccipital craniectomy and microvascular decompression (MVD) of the facial nerve for a hemifacial spasm. A computed tomography scan obtained at the time of her initial presentation showed curvilinear subcortical calcification and sulcus effacement, predominantly in the right temporal lobe (). Susceptibility-weighted magnetic resonance imaging (SWI) then demonstrated multiple curvilinear flow voids along the cerebral surface, thus suggesting the presence of a vascular anomaly. Magnetic resonance angiography (MRA) performed to evaluate the possibility of a vascular lesion, revealed a DAVF of the isolated right transverse sinus as well as cortical venous reflux (). Digital subtraction angiography (DSA) demonstrated a DAVF with an isolated right transverse sinus, supplied by the transosseous branches of the bilateral occipital artery, and the petrosquamous branch of the right middle meningeal artery as well as dural branches from the right vertebral artery. There was retrograde cortical venous reflux (CVR) via leptomeningeal veins from the temporal lobe (). Due to our fear of the risk of hemorrhage or venous infarction associated with CVR, we decided to perform endovascular treatment of the DAVF. Intervention was performed with the patient under general anesthesia. An intravenous bolus of 4000 IU of heparin was administered following placement of a 6-French guiding sheath in the right femoral artery. We initiated the embolization procedures using superselective catheterization of the larger arterial pedicle, which supplied the isolated sinus of the DAVF, in order to achieve the arteriovenous shunt point. A 6-French guiding catheter (Envoy, Cordis Endovascular, Miami Lakes, FL, USA) was placed at the origin of the external carotid artery supplying the meningeal artery chosen for DAVF catheterization. A Marathon microcatheter (ev3 Inc., Plymouth, MN, USA) was then navigated coaxially to access the DAVF under road map (). The microcatheter lumen was then flushed with dimethyl sulfoxide (DMSO, ev3 Inc., Plymouth, MN, USA). After that, 0.3 mL Onyx-18 was injected within DAVF followed by biplanar simultaneous subtracted fluoroscopy. During the injection of Onyx, special attention was given in order to maintain a steady injection of Onyx, while looking for any reflux of Onyx into the feeding artery along the microcatheter as well as into the cortical vein beyond the isolated sinus. When unwanted flow into a non-targeted areas was observed, the injection was stopped for as long as two minutes. Once the affected sinus was completely packed with Onyx and there was reflux into the feeding artery along the microcatheter, the injection was terminated. The microcatheter was gently pushed back and could then be removed without any complications. Post-embolization angiography showed very slow flow to the right transverse sinus from the occipital artery, and with sequential contrast filling in the right middle meningeal artery, although without evidence of an arteriovenous shunt with early cortical venous drainage (). The total duration of the Onyx injection was 21 minutes, including eight pauses for reflux. The total procedure time from puncture of the femoral artery to closure of the puncture site was 60 minutes. The patient was discharged five days later and her postoperative course was uneventful. During the next four months, the patient was symptom-free and follow-up magnetic resonance imaging was then scheduled. |
A 68-year-old man was admitted to the Department of Neurology, Linyi People’s Hospital in 15 May of 2018 with mental and behavioral abnormalities, unstable walking, headaches, and erratic hand movements. Family members complained that over the past 2 months, the patient had been showing impulsiveness and irritability, wastefulness, particularly with food, and using foul language. These behaviours commonly lasted a half an hour each time, and the patient would often be conscious of his actions afterwards. He reported that he frequently suffered from mild headaches in the left frontal occipital region, numbness in the left facial face, and urinary incontinence at night. He had no known allergies. He was raised and lived in the area. He has been smoking for 30 years but but did not drink alcohol or use any illicit drugs. He had not traveled recently, and reported no exposures to patient with similar symptoms, farm or livestock, or bitter insect bites. There was no family history of genetic diseases and autoimmune diseases.\nOn examination, his temperature was 37 °C, blood pressure was 90/53 mmHg, heart pulse was 99 beats per minute, respiratory rate was 21 breaths per minute. The patient was fully awake and communicated with the doctor in a normal way, but was slow to respond, had poor memory and computational power. He had a stiff face, nuchal rigidity, and mild ptosis on the left side. The bilateral pupils were normal. Sensory examination revealed hypoesthesia on the left side of the face. The strength of the limbs was normal. No pathological reflexes were detected. Cerebellar testing was not carried out because the patient was not cooperative.\nRoutine blood, No abnormalities in liver, kidney and thyroid function tests. The levels of albumin, globulin, electrolytes and glucose in the blood are also normal. Plasma C-reactive protein (CRP) was 98 mg/l, Erythrocyte sedimentation rate (ESR) was 30 mm/h. Autoimmunity exams revealed that anti-NMDAR antibodies were positive and levels of serum IgG4 was 60.5 mg/dL. whereas serum values were negative for tumor markers (AFP, CEA, CA125, CA199, FPSA, NSE, CYFRA21-1, CA72–4), rheumatoid factor (RF), antineutrophil cytoplasmic antibodies (ANCA), antinuclear antibodies (ANA), MPO antibodies and PR3 antibodies.\nLumbar puncture and subsequent cerebrospinal fluid (CSF) examination results showed a raised protein level (831 mg/L), white blood cell count was 8000 with mainly lymphocytes, and no abnormal performance from infection. An immunological examination of the CFS results also tested positive for anti-NMDAR antibodies, whereas IgG4 and anti-CASPR2, anti-AMPA1, anti-AMPA2, anti-LGI1, anti-GABAB antibodies were normal. There was no lesion suggestive of lung disease in Chest High Resolution CT. Magnetic resonance imaging (MRI) of the brain showed a thickening of dura mater localized at the left tentorium cerebelli, left cerebral hemisphere, and cerebral falx; the thickening dura mater was characterized by an intense contrast enhancement after the administration of gadolinium (Fig. a, b). Magnetic resonance venography (MRV) showed no obvious indication of the left internal jugular vein, and both of the left transverse sinus and the sigmoid sinus was slim with local stenosis; there was also increased cortical drainage in the left cerebral hemisphere (Fig. c). Video electroencephalogram (EEG) monitoring showed that each electrode detected a small amount of low-amplitude slow wave.\nThe patient underwent a composite evaluation and a diagnosis of anti-NMDAR encephalitis with dural hypertrophy was proposed. Following recent research findings and expert advice, the patient received high doses of intravenous methylprednisolone during his hospitalization. No adverse or unexpected events occurred during the treatment. After 5 days, the patient’s condition improved and he was asked to leave the hospital. The results of the MRI resonance examination showed almost the same as before the treatment. The patient is very satisfied with the treatment and treatment results received. After hospital discharge, 30 mg/die of prednisone, per os was recommended. The patient was referred to us again at 10 months after discharge. There had been no symptoms include mental and behavioral abnormalities. Nevertheless, slight chronic headache persisted. A follow-up MRI did not find Significant changes. Prednisone was followed by maintenance treatment. Follow-up information through telephone call showd partial regression of headaches in 1 August of 2019. |
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