摘要
目的探讨1例因TBC1D24基因突变所致的家族性婴儿肌阵挛癫痫患儿的临床表现及其家系研究并进行相关文献回顾。方法收集武汉儿童医院神经内科收治的1例TBC1D24基因突变导致家族性肌阵挛癫痫伴发育迟缓的家系,复习文献资料,总结其临床特征及诊治进展。结果先证者,女,6岁9个月,因"间断抽搐6年余"于2018年7月就诊,患儿2个月大时出现抽搐,抽搐形式为阵发性面色及四肢末端青紫,每天均有发作,3岁时抽搐形式为肌阵挛发作,2~3个月发作1次,多种抗癫痫药物均控制不佳,合并严重智力障碍。查体未见阳性体征,辅检:头颅MRI正常,脑电图示EPC。先证者之弟,男,3岁6个月,抽搐主要表现为双上肢及颜面部不自主抖动,睡眠后缓解,未用抗癫痫药治疗,合并轻度智力障碍。对先证者及其家系进行基因检测发现,先证者有1个基因突变,TBC1D24为复合杂合错义突变(c.1207(exon 6)G>T,p.V403L)、(c.1499(exon 7)C>T,p.A500V),其中前者遗传自父亲,后者遗传自母亲,先证者弟弟具有TBC1D24的相同位点突变。结论TBC1D24是先证者及其弟弟主要致病基因,对于难治性肌阵挛癫痫伴有严重智力障碍的,建议行TBC1D24基因筛查。
Objective To investigate the clinical manifestations and pedigree of a child with familial infantile myoclonic epilepsy caused by TBC1D24 gene mutation,and the relevant literatures were reviewed.Methods This study collected a case of familial myoclonic epilepsy with development delay caused by TBC1D24 gene mutation which was admitted to the Department of Neurology,Wuhan Children′s Hospital,reviewed literatures,summarized clinical manifestations and the update of diagnosis and treatment.Results The propositus,female,six years and nine months old,was hospitalized in July 2018 due to″intermittent convulsions for more than six years″.The child had convulsions when she was two months old.The convulsions were in the form of paroxysmal blue and purple of the complexion and the end of her limbs.She had seizures every day.When she was three years old,the convulsions were in the form of myoclonic seizures.The seizures occurred once in two or three months.Many kinds of antiepileptic drugs were used but they could not control well,the patient had severe development delay.No positive signs were found in the physical examination.The auxiliary examination:the MRI of the head was normal,and the electroencephalogram showed EPC(epilepsia partialis continua).The younger brother of the propositus,male,three years and six months old.Convulsions were mainly manifested as involuntary shaking of both upper limbs and face,remission after sleep,no treatment with antiepileptic drugs,and mild mental disorders.One gene mutation was found in propositus,TBC1D24 was the compound heterozygous missense mutation(c.1207(exon 6)G>T,p.v403l),(c.1499(exon 7)C>T,P.A500V).The former was inherited from father,the latter from mother,and the younger brother of the proband had the same TBC1D24 site mutation.Conclusion TBC1D24 is the main pathogenic gene of the propositus and her younger brother.It is suggested to screen TBC1D24 gene for refractory myoclonic epilepsy with severe mental disorders.
作者
张皓雅
胡春辉
孙丹
刘智胜
ZHANG Haoya;HU Chunhui;SUN Dan;LIU Zhisheng(School of Medicine,Jianghan University,Wuhan 430056,Hubei,China;Wuhan Children′s Hospital Affiliated to Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430016,Hubei,China)
出处
《江汉大学学报（自然科学版）》
2020年第3期57-61,共5页
Journal of Jianghan University：Natural Science Edition
基金
国家重点研发计划项目(2016YFCl306202)
武汉市科技创新平台——儿童神经疾病临床医学研究中心资助项目(2014—160)
江汉大学2017级研究生科研创新基金项目(Jhdxyjs17lc003)。
