Journal article

Brain Magnetic Resonance Imaging Findings Fail to Suspect Fabry Disease in Young Patients With an Acute Cerebrovascular Event

Franz Fazekas, Christian Enzinger, Reinhold Schmidt, Ulrike Grittner, Anne-Katrin Giese, Michael G Hennerici, Roman Huber, Gerhard J Jungehulsing, Manfred Kaps, Christof Kessler, Peter Martus, Jukka Putaala, Stefan Ropele, Christian Tanislav, Turgut Tatlisumak, Vincent Thijs, Bettina von Sarnowski, Bo Norrving, Arndt Rolfs

Stroke | LIPPINCOTT WILLIAMS & WILKINS | Published : 2015

Abstract

BACKGROUND AND PURPOSE: Fabry disease (FD) may cause stroke and is reportedly associated with typical brain findings on magnetic resonance imaging (MRI). In a large group of young patients with an acute cerebrovascular event, we wanted to test whether brain MRI findings can serve to suggest the presence of FD. METHODS: The Stroke in Young Fabry Patients (SIFAP 1) study prospectively collected clinical, laboratory, and radiological data of 5023 patients (18-55 years) with an acute cerebrovascular event. Their MRI was interpreted centrally and blinded to all other information. Biochemical findings and genetic testing served to diagnose FD in 45 (0.9%) patients. We compared the imaging findings..

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