MSTO1基因变异致线粒体肌病伴共济失调一家系病例报告并文献复习  

Mitochondrial myopathy with ataxia caused by MSTO1 gene mutation: a family case report and literature review

作　　者：肖婷[1] 杨海燕 甘思仪 吴丽文 Xiao Ting;Yang Haiyan;Gan Siyi;Wu Liwen(Department of Pediatric Neurology,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Neurology,Hunan Children′s Hospital,Changsha 410007,China)

机构地区：[1]中南大学湘雅医院小儿神经专科,长沙410008 [2]湖南省儿童医院神经内科,长沙410007

出　　处：《中华实用儿科临床杂志》2022年第19期1498-1501,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金(81671297)。

摘　　要：对2019年10月来中南大学湘雅医院就诊的MSTO1基因变异致线粒体肌病伴共济失调一个家系的临床特征和基因变异特点进行回顾性分析。先证者, 女, 11岁, 1岁6个月发现运动和语言发育迟缓, 构音障碍。弟弟, 9岁, 1岁3个月出现类似症状。先证者及弟弟均有肌肉无力与共济失调, 其头部磁共振成像均示小脑萎缩。二者肌电图均提示神经源性改变。基因检测发现MSTO1复合杂合突变:c.1259delG;p.G420VfsX2和c.571 C>T;p.R191X, 分别遗传自其父母, 弟弟有同样位点突变。予"鸡尾酒疗法", 2周后患儿症状开始改善, 语言及运动较前进步。The clinical characteristics and gene variations of a family with mitochondrial myopathy and ataxia caused by MSTO1 gene mutation who visited Xiangya Hospital of Central South University in October 2019 were retrospectively analyzed.The proband was an 11-year-old female,who was found to have delayed motor and language development and dysarthria at the age of 1 year and 6 months.The 9-year-old younger brother of the proband had similar symptoms at the age of 1 year and 3 months.Both the proband and her younger brother had muscle weakness and ataxia.Their head magnetic resonance imaging showed cerebellar atrophy,and their electromyography showed neuroge-nic changes.Genetic testing revealed compound heterozygous mutations in MSTO1:c.1259delG;p.G420VfsX2 and c.571 C>T;p.R191X,which were inherited from their parents,respectively.The same site mutations were found in the younger brother.After 2 weeks of"cocktail therapy",the symptoms of the children were alleviated,and their language and movement improved.

关 键 词：MSTO1基因 线粒体肌病 共济失调 

分 类 号：R725.9[医药卫生—儿科]