Cerebral Hemorrhage in a Paucisymptomatic Young Patient with Fabry Disease

Vincenzo Di Lazzaro, Claudio Feliciani

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

2 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)1-2
Numero di pagine2
RivistaJournal of Stroke and Cerebrovascular Diseases
DOI
Stato di pubblicazionePubblicato - 2013

Keywords

  • fabry

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