INTRODUCTION: Fabry disease (FD) is a rare, X-linked lysosomal storage disorder with multiorgan involvement. FD is caused by a partial or total deficit of α-galactosidase A enzyme, which is responsible for the accumulation of glycosphingolipids in a variety of cell types. Neurological complications include central nervous system involvement with cerebrovascular disease, peripheral neuropathy, and autonomic dysfunction. CASE REPORT: We report the case of a 47-year-old man with an atypical neurological presentation of FD, characterized by 48-hour consciousness alteration with amnesia, resembling a long-lasting episode of transient global amnesia. CONCLUSIONS: Our case expands the neurological presentations associated with FD.
|Autori:||Simoncini C; Orsucci D; Gori S; Giorgi FS; Cosottini M; Siciliano G; Mancuso M|
|Titolo:||Fabry disease with atypical neurological presentation: report of a case|
|Anno del prodotto:||2012|
|Digital Object Identifier (DOI):||10.1097/NRL.0b013e3182761cf6|
|Appare nelle tipologie:||1.1 Articolo in rivista|