TBC1D24基因突变致癫痫及发作性共济失调一例  

Epilepsy and ataxia induced by TBC1D24 gene mutation:a case report

作　　者：李宝广[1] 吴文娟 刘学芳 王丽辉[1] 王薇[1] Li Baoguang;Wu Wenjuan;Liu Xuefang;Wang Lihui;Wang Wei(Department of Neurology,the Children's Hospital of Hebei Province,Shijiazhuang 050031,China)

机构地区：[1]河北省儿童医院神经内科,石家庄050031

出　　处：《脑与神经疾病杂志》2022年第8期481-485,共5页Journal of Brain and Nervous Diseases

基　　金：河北省医学科学研究课题计划(20211377)。

摘　　要：目的 探讨TBC1D24基因突变致病的临床特点。方法 分析河北省儿童医院收治的1例TBC1D24基因突变致癫痫及发作性共济失调患儿临床资料、实验室检查和影像学表现,并采用高通量二代测序及Sanger验证技术进行基因检查。结合相关文献对其致病特点进行分析。结果 患儿主要表现为癫痫,肌阵挛,发作性共济失调,耳聋。使用奥卡西平治疗肌阵挛无加重,肌阵挛同期视频脑电图(VEEG)未见明显锁时关系的放电。头颅影像学表现为进行性小脑萎缩伴异常信号。基因检测提示:TBC1D24基因复合杂合突变,两个等位基因突变均为可能致病性突变。结论①TBC1D24基因应作为儿童癫痫、发作性共济失调、耳聋等表现的候选筛查基因之一;②TBC1D24基因突变所致肌阵挛可能为皮质下肌阵挛。Objective To investigate the clinical characteristics of TBC1 D24 gene mutation.Methods Clinical data,laboratory examination and imaging findings of 1 child with epilepsy and ataxia caused by TBC1 D24 gene mutation in Hebei Children’s Hospital were analyzed,and genetic examination was performed by highthroughput sequencing and sanger verification technology.Relevant literature was searched for clinical analysis of its pathogenic characteristics.Results The main manifestations were epilepsy,myoclonus,paroxysmal ataxia and deafness.Myoclonus was treated with oxazepine without exacerbation.The simultaneous video electroencephalogram(VEEG)of myoclonus showed no obvious time-locked discharge.Cranial imaging findings showed progressive cerebellar atrophy with abnormal signals.Gene detection indicated that TBC1 D24 gene was a complex heterozygous mutation,and both alleles were possibly pathogenic mutations.Conclusion ① TBC1 D24 gene should be one of the candidate screening genes for epilepsy,ataxia and deafness in children;② Myoclonus induced by TBC1 D24 gene mutation may be subcortical myoclonus.

关 键 词：TBC1D24基因 癫痫 共济失调 小脑萎缩 

分 类 号：R742.1[医药卫生—神经病学与精神病学]