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.

Keywords: Genetics of stroke; hemorrhagic stroke; stroke in young.