脑部磁共振成像结果未能在患有急性脑血管事件的年轻患者中怀疑法布里病。
Brain magnetic resonance imaging findings fail to suspect Fabry disease in young patients with an acute cerebrovascular event.
作者信息
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
机构信息
From the Department of Neurology (F.F., C.E., R.S., S.R.) and Division of Neuroradiology, Department of Radiology (C.E.), Medical University of Graz, Graz, Austria; Department of Biostatistics and Clinical Epidemiology, Charité-Universitätsmedizin, Berlin, Germany (U.G.); Albrecht-Kossel-Institute for Neuroregeneration, University of Rostock, Rostock, Germany (A.-K.G., A.R.); Department of Neurology, Universitätsmedizin Mannheim, University of Heidelberg, Mannheim, Germany (M.G.H.); Department of Neurology, Klinikum Friedrichshafen, Friedrichshafen, Germany (R.H.); Department of Neurology, Jüdisches Krankenhaus, Berlin, Germany (G.J.J.); Center for Stroke Research Berlin (CSB), Charité Universitätsmedizin, Berlin, Germany (G.J.J.); Justus Liebig University, Giessen, Germany (M.K., C.T.); Department of Neurology, University Medicine Greifswald, Greifswald, Germany (C.K., B.v.S.); Institute for Biostatistics, University of Tübingen, Tübingen, Germany (P.M.); Department of Neurology, Helsinki University Central Hospital, Helsinki, Finland (J.P., T.T.); Institute of Neuroscience and Physiology, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden (T.T.); Department of Neurology, Sahlgrenska University Hospital, Gothenburg, Sweden (T.T.); Department of Neurology, University Hospitals Leuven, Leuven, Belgium (V.T.); Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), KU Leuven - University of Leuven, Leuven, Belgium (V.T.); VIB, Vesalius Research Center, Laboratory of Neurobiology, Leuven, Belgium (V.T.); and Department of Clinical Neuroscience, Lund University Hospital, Lund, Sweden (B.N.).
出版信息
Stroke. 2015 Jun;46(6):1548-53. doi: 10.1161/STROKEAHA.114.008548. Epub 2015 Apr 21.
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.
背景与目的
法布里病（FD）可导致中风，据报道与磁共振成像（MRI）上典型的脑部表现相关。在一大群急性脑血管事件的年轻患者中，我们想测试脑部MRI表现是否有助于提示FD的存在。
方法
青年法布里病患者卒中（SIFAP 1）研究前瞻性收集了5023例（18 - 55岁）急性脑血管事件患者的临床、实验室和放射学数据。他们的MRI由中心解读，且对所有其他信息保密。生化检查结果和基因检测用于诊断45例（0.9%）患者的FD。我们在至少有高质量T2加权MRI的患者中比较了FD患者与非FD患者的影像学表现。
结果
共有3203例（63.8%）患者有所需的MRI数据集。其中34例患者被诊断为FD（1.1%），21例确诊，13例可能。FD患者的中位年龄略低（45岁对46岁），女性占优势（70.6%对40.7%；P<0.001）。白质高信号的存在或程度、梗死定位、椎基底动脉扩张、丘脑枕T1信号高增强或任何其他MRI表现均不能区分FD患者与非FD脑血管事件患者。FD患者中无一例出现丘脑枕高增强，但在6例非FD患者中可见。
结论
对于出现急性脑血管事件的年轻患者，脑部MRI表现不能用于怀疑FD。在寻找年轻卒中患者可能的病因时，这一点值得考虑。
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