伴发作性中枢神经系统障碍腓骨肌萎缩症X1型1例及文献复习  

Episodic neurological dysfunction in patients with X-linked Charcot-Marie-Tooth disease: Acase report and literature review

作　　者：戎丹燕 刘卫国[1] 于淼 郭志颖 周昊 RONG Danyan;LIU Weiguo;YU Miao;GUO Zhiying;ZHOU Hao(Affiliated Brain Hospital of Nanjing Medical University,Nanjing 210029,China)

机构地区：[1]南京医科大学附属脑科医院,江苏南京210029

出　　处：《中国实用神经疾病杂志》2023年第7期898-904,共7页Chinese Journal of Practical Nervous Diseases

基　　金：国家自然科学基金面上项目(编号:81571348,81903589);国家重点研发计划重点专项(编号:2017YFC1310302);江苏省科技计划项目重点项目(编号:BE2019611)。

摘　　要：目的分析伴发作性中枢神经系统障碍的腓骨肌萎缩症X1型(CMTX1)的临床及遗传学特点。方法回顾性分析2021-08南京医科大学附属脑科医院收治的1例CMTX1伴发作性中枢神经系统障碍患者的临床资料及基因检测结果,并以“夏科-马里-图斯病、腓骨肌萎缩症、发作性、卒中样、CMTX1、CMTX、X-linked Charcot-Marie-Tooth、connexin32、GJB1、episodic、recurrent”为关键词,检索万方数据知识服务平台、中国知网、PubMed数据库公开发表的CMTX1伴发作性中枢神经系统障碍病例。结果共检索到中英文文献46篇,结合本病例,共纳入58例病例,重点总结中文文献报道的11例病例临床及遗传学特点。11例伴发作性中枢神经系统功能障碍的CMTX1患者在发作期临床表现为四肢无力、构音障碍、吞咽困难、头晕呕吐,发作持续时间10 min~20 h,发作后均可缓解。MRI显示以脑室白质周围对称性DWI序列高信号,T_2序列异常信号最为常见,其次是胼胝体压部的异常信号。神经电生理特点是周围神经传导速度中等程度减慢。中文报道的11例基因突变位点无重复,中英文报道的58例基因突变位点仅少数重复,出现2次及以上的突变位点是c.65G>A(p.Arg22Gln)、c.425G>A(p.Arg142Gln)、c.490C>T(p.Arg164Trp)、c.424C>T(p.Arg142Trp),本例患者携带c.65G>A(p.Arg22Gln)为文献已报道的最常见致病变异。结论发作性中枢神经系统障碍伴脑白质病变的患者应考虑CMTX1诊断的可能,应结合家族史、详细的神经系统检查、电生理及遗传学检测进一步明确。Objective To analyze the phenotype and genotype of CMTX1 patients with recurrent CNS dys⁃function.Methods The clinical data and genetic test results of a patient with CMTX1 complicated with recurrent CNS dysfunction in the Affiliated Brain Hospital of Nanjing Medical University was analyzed.Besides,publicly pub⁃lished reports on CMTX1 with recurrent CNS dysfunction before November 2021 were retrieved from electronic data⁃bases of Wanfang Data Knowledge service Platform,CNKI,and PubMed using“CMTX1,CMTX,X-linked Charcot-Marie-Tooth, connexin32, GJB1, episodic, recurrent”and their corresponding Chinese characters as keywords. Re⁃sults A total of 58 domestic and foreign literature reports were researched, combined with our case. We focus onsummarizing the clinical characteristics and mutation sites of 11 publicly reported cases in China. The episodes weremanifested as weakness of limbs, dysarthria, dysphagia, dizziness and vomiting. The episodes lasted for 10 minutes to20 hours with complete remission in all patients. During the episode, brain MRI showed symmetrical high signals inT2 weighted and DWI images in periventricular white matter in most cases, followed by the splenium of corpus callo⁃sum. Neuroelectrophysiological features were moderate slowing. The mutation sites of 11 cases reported in China werenot repeated. Only a few of the mutation sites were repeated in 58 cases reported at home and abroad. The mutationsites repeating twice or more were c.65G > A (p.Arg22Gln), c.425G > A (p.Arg142Gln), c.490 C > T(p.Arg164Trp)and c.424C > T(p.Arg142Trp). The mutation site c.65G >A(p.Arg22Gln)reported in our case report,which is the most common mutation site. Conclusion Patients with episodic central nervous system disorders andtransient reversible white matter involvement should consider the possibility of CMTX1 diagnosis. Detailed family his⁃tory, neurological examination, electrophysiological and genetic testing should be combined for further confirmation.

关 键 词：夏科-马里-图斯病 腓骨肌萎缩症 中枢神经系统障碍 脑白质病变 基因突变 神经电生理 遗传学检测 

分 类 号：R596.1[医药卫生—内科学]