Amelanotic leptomeningeal melanoblastosis. Case report

Leptomeningeal melanoblastosis is a rare phakomatosis; the amelanotic variant has not till now been described. In this paper we report the case of a young man suffering from amelanotic leptomeningeal melanoblastosis manifested as medullary syndrome and secondary intracranial hypertension. The diagnosis of leptomeningeal melanoblastosis was hypothesized on the basis of CSF and neuroradiological findings and it was finally confirmed by the histopathology.