von hippel  lindau disease ( vhl ) , a multisystem hereditary neoplastic syndrome , most commonly presents with a cerebellar or retinal hemangioblastoma . we here present one unique case of vhl with a natural history that was initially misevaluated as acute myelitis , which together with literatures reviewed will be helpful for a better understanding of vhl . a 28-year - old male presented with a 2-day history of acute and progressive back  neck pain , and numbness and weakness of both lower extremities concurrent with feces and urine retention secondary to an influenza 1  week before onset . he responded markedly to intravenous administration of glucocorticoid for 1  week after being initially misevaluated as acute myelitis  in a poor countryside clinic , who was misdiagnosed by the barefoot doctor only according to his natural history without detailed examination by ct or mri . on our body examination , muscle strength of lower limbs was grade 5 , with increase of their muscle tone and accentuation of deep tendon reflex . routine examinations , including cerebrospinal fluid , showed no abnormality except that abdominal ultrasound demonstrated renal lesions . magnetic resonance brain , spinal cord , and kidney images showed multiple lesions of different size , mostly with clear boundaries and marked contrast enhancement ( fig . spinal canal explorations revealed two red nodular subdural lesions at t10 and t12 that accorded with fig . . pathological analysis indicated many small blood vessels with a small amount of foam cells , fat - like cells and fibroblasts , which tested positive for gfap , f8 , and lys , though negative for cd68 , ck - pan , and ema by immunohistochemistry assay ( fig . the mutation analysis was completed yet did not find the variation after polymerase chain reaction ( pcr ) and sequencing of three exons of vhl gene . systematic enquiry and examinations indicated his father as an asymptomatic affected individual with hemangioblastomas involved in brain and kidney . the patient improved further on his neurological manifestation 2  weeks after surgery on the two nodules . one year later , a follow - up study indicated that he was completely rehabilitated.fig . two small nodular enhancing lesions with clear boundary at t10 and t12 were indicated ( arrows ) . three oval enhancing lesions with clear boundary at the posterior medullar , the pontine base , and the intramedullary spinal cord at c2 were indicated ( arrows ) . two nodular enhancing lesions with clear boundary at the posterior medullar and the right cerebellar hemisphere were indicated ( arrows ) . a nodular enhancing lesion with unclear boundary in the lateral cortex of right kidney , as well as a circular - like enhancing lesion in the upper right kidney were indicated ( arrows ) . many small blood vessels with a few foam cells , fat - like cells , and fibroblasts were indicated ( 400 ) . gfap , f8 , and lys - positive cells were indicated ( arrow , 400 ) a sagittal t2-weighted spine mr image . two small nodular enhancing lesions with clear boundary at t10 and t12 were indicated ( arrows ) . b sagittal t1-weighted cranial - cervical mr image . three oval enhancing lesions with clear boundary at the posterior medullar , the pontine base , and the intramedullary spinal cord at c2 were indicated ( arrows ) . two nodular enhancing lesions with clear boundary at the posterior medullar and the right cerebellar hemisphere were indicated ( arrows ) . a nodular enhancing lesion with unclear boundary in the lateral cortex of right kidney , as well as a circular - like enhancing lesion in the upper right kidney were indicated ( arrows ) . many small blood vessels with a few foam cells , fat - like cells , and fibroblasts were indicated ( 400 ) . gfap , f8 , and lys - positive cells were indicated ( arrow , 400 ) the vhl is a rare ( 1/36,000 ) , autosomal dominant , neurocutaneous dysplastic condition [ 1 , 2 ] . the following three criteria suggest a diagnosis of vhl : ( 1 ) one or more hemangioblastomas within the central nervous system ( typically in the cerebellum ) , ( 2 ) presence of visceral lesions ( e.g. renal , pancreatic tumors / cysts ) , and ( 3 ) familial incidence [ 14 ] . common tumors found in vhl include retinal angiomas , cns hemangioblastomas , renal cell carcinomas , and pheochromocytoma [ 16 ] . this patient was characterized by multiple tumors involved in both the central nervous system and visceral , as well as family history , which was in accordance with vhl criteria . our case also exemplified a rare presentation of vhl as only a minority of hemangioblastomas will present in the spinal cord and even fewer in the cervical spine . furthermore , never has a case of vhl been reported that mimics onset form of acute myelitis . hemangioblastomas in cns commonly occur in the posterior fossa and craniocervical junction [ 1 , 2 ] . in this case , the brain lesions presented in posterior medullar adjacent to midmost foramina of the fourth ventricle , which had rarely been reported previously , and the spine lesions mainly occurred in the subdura of the cervical and thoracic spine in accordance with the previous report . it was reported that renal lesions are usually cysts or solid tumors , which are generally considered as malignant irrespective of the presentation of images . for this patient , renal tumors occurred in the early disease course , suggesting a high possibility of malignancy . this patient had multiple lesions except retinal hemangioblastoma , whereas he indicated few of the corresponding symptoms , even without showing a chronic onset and course , which is rare in clinical practice , suggesting that vhl can be highly clinical heterogeneous . different from typical mri features of vhl , this case showed a form of solid tumors with remarkable enhancement , yet without  flow - empty  phenomena , which should be distinguished from metastatic tumor , abscess , meningioma , vascular tumor , multiple small abscess , diffuse tuberculoma , or schistosoma granuloma . since vhl , in general , develops new lesions at about one lesion every 2  years , with known lesions having rapid growth , frequent follow - up mri examinations seem necessary . of the histopathological features of vhl , one is the cytoplasmic vacuole - like structure formed via lipoid phagocytosis of tumor cells , another is plenty of reticular fibers distributed in tumors . for this case , although the lesions had no cystic structure , the pathological findings complied with the typical changes of vhl . the vhl gene on chromosome 3p25 - 26 was found in 1993 , which acts as a tumor suppressor gene . although the genetic study did not find the mutation , it seemed that the disease might be heterogeneous . currently we are applying new - generation sequencing technology to identify the novel vhl mutation in this patient for it might be due to a rare variant . in sum we reported one unique case of vhl with a natural history that mimics acute myelitis . diagnosis for vhl should be based on combination of clinical , radiological , pathological , and genetic data . early diagnosis , active radiological and surgical management , and frequent follow - up mri examinations are critical to prognosis of vhl .
von hippel  lindau disease ( vhl ) comprises a series of complicated clinical manifestations . 
 we hereby report one unique case of vhl with a natural history that mimics acute myelitis . 
 mri and biopsy in this patient showed multiple solid hemangioblastomas of the central nervous system and kidney . 
 this study further confirmed that vhl is of highly clinical , imaging , and pathological heterogeneity . 
 diagnosis for vhl should be based on combination of clinical , radiological , pathological , and genetic data .