title: Fabry's disease presenting with stroke.
abstract: An atypical patient with Fabry's disease is presented. This patient developed a left internal capsule lacunar stroke at the age of 25. The etiology of the stroke was unclear. At the age of 29 he was discovered to have corneal lesions suggestive of Fabry's disease but had no other clinical features typical of Fabry's disease. The diagnosis of Fabry's disease was confirmed biochemically. Fabry's disease should be included in the differential diagnosis of stroke of unclear etiology in young male patients.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
authors.forename: R P
authors.initials: RP
authors.lastname: Grewal
authors.forename: N W
authors.initials: NW
authors.lastname: Barton
mesh_terms: D000328:Adult; D002561:Cerebrovascular Disorders / Q000209:etiology* / Q000235:genetics; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase