Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event
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Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. / Fazekas, Franz; Enzinger, Christian; Schmidt, Reinhold; Grittner, Ulrike; Giese, Anne-Katrin; Hennerici, Michael G; Huber, Roman; Jungehulsing, Gerhard J; Kaps, Manfred; Kessler, Christof; Martus, Peter; Putaala, Jukka; Ropele, Stefan; Tanislav, Christian; Tatlisumak, Turgut; Thijs, Vincent; von Sarnowski, Bettina; Norrving, Bo; Rolfs, Arndt; SIFAP 1 Investigators.
In: STROKE, Vol. 46, No. 6, 06.2015, p. 1548-53.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event
AU - Fazekas, Franz
AU - Enzinger, Christian
AU - Schmidt, Reinhold
AU - Grittner, Ulrike
AU - Giese, Anne-Katrin
AU - Hennerici, Michael G
AU - Huber, Roman
AU - Jungehulsing, Gerhard J
AU - Kaps, Manfred
AU - Kessler, Christof
AU - Martus, Peter
AU - Putaala, Jukka
AU - Ropele, Stefan
AU - Tanislav, Christian
AU - Tatlisumak, Turgut
AU - Thijs, Vincent
AU - von Sarnowski, Bettina
AU - Norrving, Bo
AU - Rolfs, Arndt
AU - SIFAP 1 Investigators
AU - Thomalla, Götz
N1 - © 2015 American Heart Association, Inc.
PY - 2015/6
Y1 - 2015/6
N2 - 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 between FD and non-FD patients in patients with at least a T2-weighted MRI of good quality.RESULTS: A total of 3203 (63.8%) patients had the required MRI data set. Among those were 34 patients with a diagnosis of FD (1.1%), which was definite in 21 and probable in 13 cases. The median age of patients with FD was slightly lower (45 versus 46 years) and women prevailed (70.6% versus 40.7%; P<0.001). Presence or extent of white matter hyperintensities, infarct localization, vertebrobasilar artery dilatation, T1-signal hyperintensity of the pulvinar thalami, or any other MRI finding did not distinguish patients with FD from non-FD cerebrovascular event patients. Pulvinar hyperintensity was not present in a single patient with FD but seen in 6 non-FD patients.CONCLUSIONS: Brain MRI findings cannot serve to suspect FD in young patients presenting with an acute cerebrovascular event. This deserves consideration in the search for possible causes of young patients with stroke.CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583.
AB - 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 between FD and non-FD patients in patients with at least a T2-weighted MRI of good quality.RESULTS: A total of 3203 (63.8%) patients had the required MRI data set. Among those were 34 patients with a diagnosis of FD (1.1%), which was definite in 21 and probable in 13 cases. The median age of patients with FD was slightly lower (45 versus 46 years) and women prevailed (70.6% versus 40.7%; P<0.001). Presence or extent of white matter hyperintensities, infarct localization, vertebrobasilar artery dilatation, T1-signal hyperintensity of the pulvinar thalami, or any other MRI finding did not distinguish patients with FD from non-FD cerebrovascular event patients. Pulvinar hyperintensity was not present in a single patient with FD but seen in 6 non-FD patients.CONCLUSIONS: Brain MRI findings cannot serve to suspect FD in young patients presenting with an acute cerebrovascular event. This deserves consideration in the search for possible causes of young patients with stroke.CLINICAL TRIAL REGISTRATION: URL: http://www.clinicaltrials.gov. Unique identifier: NCT00414583.
KW - Adolescent
KW - Adult
KW - Brain Infarction
KW - Fabry Disease
KW - Female
KW - Humans
KW - Magnetic Resonance Imaging
KW - Male
KW - Middle Aged
KW - Vertebrobasilar Insufficiency
U2 - 10.1161/STROKEAHA.114.008548
DO - 10.1161/STROKEAHA.114.008548
M3 - SCORING: Journal article
C2 - 25899239
VL - 46
SP - 1548
EP - 1553
JO - STROKE
JF - STROKE
SN - 0039-2499
IS - 6
ER -