SCN8A基因突变相关癫痫性脑病2例报告并文献复习  

SCN 8 A gene mutation associated epileptic encephalopathy in two cases and literature review

作　　者：姚春美[1] 赵荣江[2] 邓亚仙[1] 任守臣[1] 王雅洁[1] 杨伟力[1] 高宝勤[1] YAO Chunmei;ZHAO Rongjiang;DENG Yaxian;REN Shouchen;WANG Yajie;YANG Weili;GAO Baoqin(Department of Pediatrics, BeijingTiantan Hospital Affiliated to Capital Medical University, Beijing 100050, China;Beijing Huilongguan Hospital, Beijing100096, China)

机构地区：[1]首都医科大学附属北京天坛医院儿科,北京100070 [2]北京回龙观医院,北京100096

出　　处：《临床儿科杂志》2019年第6期462-465,共4页Journal of Clinical Pediatrics

基　　金：北京市属医院科研培育计划项目(No.PX2017067);首都医科大学基础—临床科研合作基金项目(No.17JL-03)

摘　　要：目的探讨SCN8A基因突变相关癫痫性脑病的临床特点和诊治。方法回顾分析2例确诊SCN8A基因突变相关癫痫性脑病患儿的临床资料,并复习相关文献。结果2例患儿均为男性,均以抽搐起病,同时伴有精神运动发育落后;经基因检测均证实有SCN8A基因突变。例1患儿生后3.5个月起病后,因左乙拉西坦治疗致发作增加而改用妥泰和中药,但抽搐控制不理想;2岁9个月时抽搐频繁,同时伴有严重的语言和运动发育倒退及吞咽功能差;加用拉莫三嗪口服后发作停止,吞咽功能,以及运动和语言恢复至抽搐频繁发作前水平。例2生后2个月起病后,服用妥泰发作减少,但未完全控制;后突然抽搐频繁,同时因在夏季出汗减少和体温增高,逐渐停用妥泰换用左乙拉西坦,但发作次数有增多趋势;遂停用左乙拉西坦换用丙戊酸钠,抽搐发作减少;联合应用奥卡西平后发作完全控制,随访2年半未再发作;例2患儿自出生至今全面发育落后、吞咽功能差。结论SCN8A基因突变所致癫痫起病年龄早,常合并智力障碍/发育迟缓,同时伴有语言落后,发作严重时出现吞咽功能异常;对钠离子通道阻滞剂反应较好。Objective To explore the clinical characteristics,diagnosis and treatment of SCN8A gene mutation associated epileptic encephalopathy.Method The clinical data of SCN8A gene mutation associated epileptic encephalopathy in 2 children were retrospectively analyzed,and the related literature was reviewed.Results Two boys had psychomotor retardation and was onset with convulsions.The mutation of SCN8A gene was con firmed in 2 patients by gene test.The age at onset was 3.5 months after birth in case 1.Because of the increase of seizures with the use of lethiracetam,it was replaced by topiramate and traditional Chinese medicine,but effect in the control of seizures was not ideal.At the age of 2 years and 9 months,the child had frequent seizures,accompanied by severe regression of language and motor development and poor swallowing function.After addition of lamotrigine,the seizures was stopped and his swallowing function was returned to normal,and the movement and language began to recover gradually.The age at onset was 2 months after birth in case 2.The seizure frequency was reduced but not completely controlled after the treatment of topiramate.Due to reduced sweating and increased body temperature in summer as well as increased seizure frequency,topiramate was discontinued and replaced by levetiracetam,but the seizure frequency was increased.Thus,levetiracetam was discontinued and was replaced by sodium valproate,and the seizure frequency was reduced.After combined use of oxcarbazepine,seizures were completely controlled,and no recurrence was observed for two and a half years of follow-up.Case 2 suffered from delayed development and poor swallowing function from birth to now.Conclusions SCN8A gene mutation leads to early onset of epilepsy often accompanied by mental/developmental retardation and delayed language development.When the seizures are severe,abnormal swallowing function occurs.The disease responds well to sodium channel blockers.

关 键 词：SCN8A基因 癫痫 钠离子通道阻滞剂 脑病 

分 类 号：R742.1[医药卫生—神经病学与精神病学]