[Sudanophilic cavitating leukodystrophy: adult familial form]

Abstract

Sudanophilic cavitating leukodystrophy is an unusual disorder of the cerebral white matter, clinically characterized by deafness, mental retardation, behavioural alterations and lesions of the descending long tracts. Neuropathological features include: extensive subcortical and deep central demyelination, conspicuous astrocytosis and macro and micro cavitation. We describe a 34 year-old male with personal and family history, clinical features and neuropathological changes consistent with Sudanophilic cavitating leukodystrophy. As far as our knowledge is concerned this constitutes the first report of this entity in Venezuela.