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

被引：32

作者：

Fazekas, Franz ^{[1
]}

Enzinger, Christian ^{[1
,2
]}

Schmidt, Reinhold ^{[1
]}

Grittner, Ulrike ^{[3
]}

Giese, Anne-Katrin ^{[4
]}

Hennerici, Michael G. ^{[5
]}

Huber, Roman ^{[6
]}

Jungehulsing, Gerhard J. ^{[7
,8
]}

Kaps, Manfred ^{[9
]}

Kessler, Christof ^{[10
]}

Martus, Peter ^{[11
]}

Putaala, Jukka ^{[12
]}

Ropele, Stefan ^{[1
]}

Tanislav, Christian ^{[9
]}

Tatlisumak, Turgut ^{[12
,13
,14
]}

Thijs, Vincent ^{[15
,16
,17
,18
]}

von Sarnowski, Bettina ^{[10
]}

Norrving, Bo ^{[19
]}

Rolfs, Arndt ^{[4
]}

机构：

[1] Med Univ Graz, Dept Neurol, A-8036 Graz, Austria

[2] Med Univ Graz, Dept Radiol, Div Neuroradiol, A-8036 Graz, Austria

[3] Charite, Dept Biostat & Clin Epidemiol, D-13353 Berlin, Germany

[4] Univ Rostock, Albrecht Kossel Inst Neuroregenerat, D-18055 Rostock, Germany

[5] Heidelberg Univ, Univ Med Mannheim, Dept Neurol, Mannheim, Germany

[6] Klinikum Friedrichshafen, Dept Neurol, Friedrichshafen, Germany

[7] Jud Krankenhaus, Dept Neurol, Berlin, Germany

[8] Charite, Ctr Stroke Res Berlin CSB, D-13353 Berlin, Germany

[9] Univ Giessen, D-35390 Giessen, Germany

[10] Univ Med Greifswald, Dept Neurol, Greifswald, Germany

[11] Univ Tubingen, Inst Biostat, Tubingen, Germany

[12] Univ Helsinki, Cent Hosp, Dept Neurol, Helsinki, Finland

[13] Univ Gothenburg, Sahlgrenska Acad, Inst Neurosci & Physiol, Gothenburg, Sweden

[14] Sahlgrens Univ Hosp, Dept Neurol, Gothenburg, Sweden

[15] Univ Hosp Leuven, Dept Neurol, Leuven, Belgium

[16] Univ Leuven, Dept Neurosci, KU Leuven, Expt Neurol, Leuven, Belgium

[17] Univ Leuven, Leuven Res Inst Neurosci & Dis LIND, KU Leuven, Leuven, Belgium

[18] VIB, Vesalius Res Ctr, Neurobiol Lab, Leuven, Belgium

[19] Univ Lund Hosp, Dept Clin Neurosci, S-22185 Lund, Sweden

来源：

STROKE | 2015年 / 46卷 / 06期

关键词：

cerebrovascular accident; acute; Fabry disease; magnetic resonance imaging; STROKE; DIAGNOSIS; MANIFESTATIONS; ABNORMALITIES; PULVINAR; SPECTRUM;

D O I：

10.1161/STROKEAHA.114.008548

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：1548 / +

页数：11

共 20 条

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