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Fabry disease with atypical neurological presentation: report of a case
Costanza Simoncini1, Daniele Orsucci, Sara Gori
1Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy.
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.
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