V. Malherbe

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A severe form of hypomelanosis of Ito is reported, which presented as fetal macrocephaly and neonatal epileptic encephalopathy. Lymphocyte karyotypes were normal. MRI showed an absence of delineation between cortical grey matter and white matter. The prominent neuropathological finding was an abnormal cortical morphogenesis, with the co-existence of cells(More)
Torsion of the gallbladder is a rare disease. It is simply defined as a rotation of the gallbladder on its mesentery along the axis of the cystic duct and cystic artery. The aetiology is unknown. However, several factors are postulated as playing causative roles. The disease symptoms mimic acute cholecystisis. The current value of radiological imaging is(More)
INTRODUCTION Angiokeratoma can lead to diagnoses other than Fabry's disease. We report a case of angiokeratoma in a child with fucosidosis. CASE REPORT A 7-year-old child with psychomotor retardation presented angiokeratoma located on the penis. Uptake of type I Ulex Europaeus Agglutinin antilectin antiserum was intense in the endothelial structure. This(More)
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