一名非洲男性因独特的杂合突变导致的脑小血管疾病。
Cerebral small vessel disease due to a unique heterozygous mutation in an African man.
作者信息
Oluwole Olusegun John, Ibrahim Heba, Garozzo Debora, Ben Hamouda Karim, Ismail Mostafa Hassan Saly, Hegazy Ahmed Metwaly, Msaddi Abdul Karim
机构信息
Department of Neurology (O.J.O., A.M.H.) and Department of Radiology (H.I.), Neuro Spinal Hospital Dubai; Ain Shams University (H.I.), Cairo, Egypt; Department of Neurosurgery (D.G., K.B.H., A.K.M.) and Department of Clinical Pathology (S.I.M.H.), Neuro Spinal Hospital Dubai, United Arab Emirates; and Beni-Suef University (S.I.M.H.), Egypt.
出版信息
Neurol Genet. 2019 Dec 26;6(1):e382. doi: 10.1212/NXG.0000000000000382. eCollection 2020 Feb.
OBJECTIVE
To describe the case of an African patient who was diagnosed with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).
METHODS
Case report and literature review.
RESULTS
We present a 39-year-old Gabonese man who developed progressive gait difficulty at the age of 32, followed by insidious tetraparesis, urinary sphincter disturbance, spastic dysarthria, cognitive dysfunction, and seizures. Brain imaging was performed many years after disease onset and revealed diffuse confluent white matter lesions and lacunar infarcts. He tested negative for acquired white matter disease, but genetic screening detected a genetic variant of gene (G283R), which has not been previously reported.
CONCLUSIONS
CARASIL is a disease that usually affects Asian patients. This case report describes a unique case of an African patient diagnosed with CARASIL and a novel genetic mutation in that has not been previously described in the literature.
目的
描述一例被诊断为伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病（CARASIL）的非洲患者病例。
方法
病例报告及文献复习。
结果
我们报告一名39岁的加蓬男性，他在32岁时出现进行性步态困难，随后逐渐出现隐匿性四肢轻瘫、尿道括约肌功能障碍、痉挛性构音障碍、认知功能障碍和癫痫发作。在疾病发作多年后进行了脑部成像检查，发现弥漫性融合性白质病变和腔隙性梗死。他获得性白质病检测呈阴性，但基因筛查发现了一个基因（G283R）的基因变异，此前未见报道。
结论
CARASIL通常影响亚洲患者。本病例报告描述了一例独特的非洲患者被诊断为CARASIL的病例，以及文献中此前未描述的该基因新的基因突变。
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