251. Fabry disease with atypical neurological presentation: report of a case.
- Author
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Simoncini C, Orsucci D, Gori S, Giorgi FS, Cosottini M, Siciliano G, and Mancuso M
- Subjects
- Adult, Enzyme Replacement Therapy, Fabry Disease complications, Fabry Disease drug therapy, Glycosphingolipids metabolism, Humans, Male, Mutation genetics, Pathology, Molecular, alpha-Galactosidase therapeutic use, Amnesia etiology, Fabry Disease diagnosis
- Abstract
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.
- Published
- 2012
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