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, Jahrgang 46, Nr. 6, 06.2015, S. 1548-53.

Publikationen: SCORING: Beitrag in Fachzeitschrift/ZeitungSCORING: ZeitschriftenaufsatzForschungBegutachtung

Harvard

Fazekas, F, Enzinger, C, Schmidt, R, Grittner, U, Giese, A-K, Hennerici, MG, Huber, R, Jungehulsing, GJ, Kaps, M, Kessler, C, Martus, P, Putaala, J, Ropele, S, Tanislav, C, Tatlisumak, T, Thijs, V, von Sarnowski, B, Norrving, B, Rolfs, A & SIFAP 1 Investigators 2015, 'Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event', STROKE, Jg. 46, Nr. 6, S. 1548-53. https://doi.org/10.1161/STROKEAHA.114.008548

APA

Fazekas, F., Enzinger, C., Schmidt, R., Grittner, U., Giese, A-K., Hennerici, M. G., Huber, R., Jungehulsing, G. J., Kaps, M., Kessler, C., Martus, P., Putaala, J., Ropele, S., Tanislav, C., Tatlisumak, T., Thijs, V., von Sarnowski, B., Norrving, B., Rolfs, A., & SIFAP 1 Investigators (2015). Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event. STROKE, 46(6), 1548-53. https://doi.org/10.1161/STROKEAHA.114.008548

Vancouver

Bibtex

@article{9a2bf5476ae741a4ac534b68d898feb6,
title = "Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event",
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 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.",
keywords = "Adolescent, Adult, Brain Infarction, Fabry Disease, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Vertebrobasilar Insufficiency",
author = "Franz Fazekas and Christian Enzinger and Reinhold Schmidt and Ulrike Grittner and Anne-Katrin Giese and Hennerici, {Michael G} and Roman Huber and Jungehulsing, {Gerhard J} and Manfred Kaps and Christof Kessler and Peter Martus and Jukka Putaala and Stefan Ropele and Christian Tanislav and Turgut Tatlisumak and Vincent Thijs and {von Sarnowski}, Bettina and Bo Norrving and Arndt Rolfs and {SIFAP 1 Investigators} and G{\"o}tz Thomalla",
note = "{\textcopyright} 2015 American Heart Association, Inc.",
year = "2015",
month = jun,
doi = "10.1161/STROKEAHA.114.008548",
language = "English",
volume = "46",
pages = "1548--53",
journal = "STROKE",
issn = "0039-2499",
publisher = "Lippincott Williams and Wilkins",
number = "6",

}

RIS

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 -