PMC6399394_01
Nails and teeth of patient 1. Bone marrow aspirate and brain MRI of patient 2. (A) Nail dystrophy with candidiasis and (B) enamel hypoplasia (amelogenesis imperfecta) in patient 1. (C) May-Grunwald-Giemsa-stained bone marrow smear (x40 magnification) showing the absence of erytrhoid precursors with normal component of myeloid precursors and lymphocytes and (D) MRI that shows mild hemispheric and vermian cerebellar hypoplasia in patient 2.
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F1
Bone marrow aspirate and biopsy showed complete absence of erythroid lineage, normal granulocyte and megakaryocyte, absence of blast cells and signs of myelodysplastic syndrome (Figure 1C). During pre-transplant work-up the brain Magnetic Resonance Imaging (MRI) showed a mild cerebellar hypoplasia (Figure 1D) and routine blood exams showed severe hyponatremia (sodium 122 mmol/L) that had never been highlighted before.
PMC6399394_02
Nails and teeth of patient 1. Bone marrow aspirate and brain MRI of patient 2. (A) Nail dystrophy with candidiasis and (B) enamel hypoplasia (amelogenesis imperfecta) in patient 1. (C) May-Grunwald-Giemsa-stained bone marrow smear (x40 magnification) showing the absence of erytrhoid precursors with normal component of myeloid precursors and lymphocytes and (D) MRI that shows mild hemispheric and vermian cerebellar hypoplasia in patient 2.
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F1
Bone marrow aspirate and biopsy showed complete absence of erythroid lineage, normal granulocyte and megakaryocyte, absence of blast cells and signs of myelodysplastic syndrome (Figure 1C). During pre-transplant work-up the brain Magnetic Resonance Imaging (MRI) showed a mild cerebellar hypoplasia (Figure 1D) and routine blood exams showed severe hyponatremia (sodium 122 mmol/L) that had never been highlighted before.
EEG and MRI evolution of encephalitic episode. (A-D) EEG recordings in longitudinal bipolar montage, 15 s each panel, calibration (MKR) amplitude 100 muV. In (A) a clear-cut ongoing epileptic discharge involving the right hemisphere (mainly the infrasylvian derivations) is documented, clinically associated with the sub-acute onset of neurological symptoms, consistent with the diagnosis of focal Non-Convulsive Status Epilepticus (NCSE). In (B) the recording obtained 8 h later, after intravenous levetiracetam and phenytoin treatment, shows the resolution of the NCSE with residual diffuse slowing (predominant on the right hemisphere) and periodic temporo-occipital sharp transients (more evident on P4-O2, T4-T6, and T6-O2 channels). Ten days after sub-acute onset, the EEG does not show epileptiform discharges, but an increased amount of slow activity remains, with obvious preponderance on the right temporal regions (C). In (D) the EEG recording performed after 3 months demonstrates a complete recovery, with normal reactivity of the posterior background alpha rhythm. (E-P): Brain MRI images obtained at the onset of neurological symptoms, demonstrating multiple focal hyperintense lesions in T2-weighted (sagittal plane in E; axial images in F-H) and FLAIR (axial images I-L; coronal plane in M-P) sequences. The largest 3 lesions were located in corpus callosum (arrows in E-H,J-L,N-P). A clear hyperintensity was also visible on the right posterior thalamus (circles in I,M). Multiple lesions were evident at the cortico-subcortical junction bilaterally (arrowheads in J,O), mainly involving the right hemisphere, being the largest in the right temporo-occipital region (O). The MRI performed 30 days after the encephalitic episode showed a complete resolution of the focal lesions (in panels Q-T are depicted the correspondent coronal FLAIR images as in M-P).
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The electroencephalogram (EEG) showed a continuous ictal epileptic discharge involving the right hemisphere (Figure 2A), consistent with the diagnosis of focal status epilepticus (SE), successfully treated with intravenous administration of levetiracetam and phenytoin. Once SE was controlled, a residual confusional state was observed with EEG, showing an encephalopathic pattern characterized by diffuse slowing clearly predominant on the right hemisphere and periodic temporo-occipital sharp transients (Figure 2B). T2-weighted (Figures 2E-H) and FLAIR (Figures 2I-P) sequences, localized in corpus callosum (Figures 2E-P), right posterior thalamus (Figures 2I,M) and at the cortico-subcortical junction bilaterally(Figures 2J,O), mainly on the right hemisphere. The cerebrospinal fluid (CSF) findings showed elevated protein concentration while it resulted negative for bacterial and viral infections. The EEG performed after 10 days from onset demonstrated a slight inter-hemispheric asymmetry, due to excessive slow activities on the right posterior regions (Figure 2C). A follow-up MRI performed 30 days after the encephalitic episode showed a complete resolution of the focal lesions (Figures 2Q-T). The EEG performed 3 months after encephalitis showed a complete normalization of previous pathological findings (Figure 2D).
Bone marrow aspirate at 100 days after the second transplant. May-Grunwald-Giemsa-stained bone marrow smear (x100 magnification) showing normal trilineage haematopoiesis with the presence of erythroid precursors.
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A bone marrow aspirate performed 100 days after the second transplant showed a normal trilineage haematopoiesis with the presence of erythroid precursors (Figure 3), whereas the chimerism confirmed a complete recipient reconstitution (0% donor-derived cells).