Fabry's disease presenting with stroke

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...

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Veröffentlicht in:	Clinical neurology and neurosurgery 1992, Vol.94 (2), p.177-179
Hauptverfasser:	Grewal, R.P., Barton, N.W.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult alpha-Galactosidase - genetics Biological and medical sciences Cerebrovascular Disorders - etiology Cerebrovascular Disorders - genetics Errors of metabolism Fabry Disease - complications Fabry Disease - diagnosis Fabry Disease - genetics Fabry's disease Genetic Carrier Screening Humans Lipids (lysosomal enzyme disorders, storage diseases) Lysosomal storage disorder Male Medical sciences Metabolic brain disorder Metabolic diseases Neurologic Examination Stroke
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Beschreibung
Zusammenfassung:	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.
ISSN:	0303-8467 1872-6968
DOI:	10.1016/0303-8467(92)90079-I