title: Cerebral hemorrhage in a paucisymptomatic young patient with Fabry disease.
abstract: Fabry disease is an inborn error of glycosphingolipid catabolism caused by deficient activity of the lysosomal exoglycohydrolase α-galactosidase A. It has an X-linked inheritance and occurs in all ethnic groups, with an incidence of 1 in 40,000 in the general population. The incidence of cerebrovascular accidents in patients affected by Fabry disease is much higher than in the general population. Moreover, there is a greater prevalence of hypertension, cardiac disease, and renal disease in patients affected by Fabry disease that have suffered a stroke. Here we present the case of a paucisymptomatic young man affected by Fabry disease and treated with enzyme replacement therapy who was admitted for hemorrhagic stroke.
authors: Institute of Neurology, Campus Bio-Medico University, Rome. Electronic address: v.dilazzaro@unicampus.it.
authors: Vincenzo
authors: V
authors: Di Lazzaro
authors: Fabio
authors: F
authors: Pilato
authors: Paolo
authors: P
authors: Profice
authors: Claudio
authors: C
authors: Feliciani
authors: Rosaria
authors: R
authors: Renna
mesh_terms: D000328:Adult; D002543:Cerebral Hemorrhage / Q000150:complications*; D000795:Fabry Disease / Q000150:complications*; D006801:Humans; D008297:Male; D020521:Stroke / Q000150:complications*
keywords: Genetics of stroke; hemorrhagic stroke; stroke in young