Back to Search
Start Over
Fabry disease with atypical neurological presentation: report of a case.
- Source :
-
The neurologist [Neurologist] 2012 Nov; Vol. 18 (6), pp. 413-4. - Publication Year :
- 2012
-
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.<br />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.<br />Conclusions: Our case expands the neurological presentations associated with FD.
Details
- Language :
- English
- ISSN :
- 2331-2637
- Volume :
- 18
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- The neurologist
- Publication Type :
- Academic Journal
- Accession number :
- 23114679
- Full Text :
- https://doi.org/10.1097/NRL.0b013e3182761cf6