以反复发作性双侧面瘫及构音障碍为主要表现的X连锁腓骨肌萎缩症1型一例并文献复习  

X-linked Charcot-Marie-Tooth disease 1 with recurrent bilateral facial paralysis and dysarthria: a case report and literature review

作　　者：张忠胜[1] 成家欣 孔学健 Zhang Zhongsheng;Cheng Jiaxin;Kong Xuejian(Department of Neurology,the 6th Affiliated Hospital of Guangzhou Medical University,Qingyuan People′s Hospital,Qingyuan,Guangdong 511518,China)

机构地区：[1]广州医科大学附属第六医院(清远市人民医院)神经内科,广东省清远市511518

出　　处：《中国脑血管病杂志》2022年第11期770-773,共4页Chinese Journal of Cerebrovascular Diseases

摘　　要：腓骨肌萎缩症又称夏科-马里-图斯病(CMT),是一种遗传性周围神经疾病,可分为多种类型,其中少数X连锁CMT1(CMTX1)型患者可伴有脑白质病变。作者回顾性分析1例以反复发作性面瘫、构音障碍为主要表现,合并周围神经病变,经基因检查确诊为CMTX1型患儿的临床资料,并复习相关文献,探讨CMTX1型的病因、临床特点及预后,为临床医师提供参考。Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral nerve disease, which can be divided into various types. A few X-linked CMT1(CMTX1) patients can be accompanied by white matter lesions. The clinical data of a CMTX1 patient with recurrent facial paralysis and dysarthria combined with peripheral neuropathy diagnosed by gene examination were analyzed retrospectively. Through reviewing the related literature, the author discussed the etiology, clinical characteristics and prognosis of CMTX1 patients, which can provide reference for clinicians.

关 键 词：夏科-马里-图斯病 脑白质病变 面神经麻痹 构音障碍 GJB1基因 

分 类 号：R746.4[医药卫生—神经病学与精神病学]