拉考沙胺在低龄婴儿钠离子通道相关癫痫中的应用  

Application of lacosamide in sodium channel-related epilepsy in young infants

作　　者：廖红梅[1] 康庆云[1] 吴丽文 方红军[1] 江志[1] 旷小军[1] 邱梅娟 Liao Hongmei;Kang Qingyun;Wu Liwen;Fang Hongjun;Jiang Zhi;Kuang Xiaojun;Qiu Meijuan(Department of Neurology,Hunan Children′s Hospital,Changsha 410007,China)

机构地区：[1]湖南省儿童医院神经内科,长沙410007

出　　处：《中华神经科杂志》2022年第8期826-833,共8页Chinese Journal of Neurology

摘　　要：目的对SCN2A基因突变钠离子通道相关癫痫低龄患儿的临床资料进行报道,结合文献复习对该疾病的临床特点及应用拉考沙胺的疗效和安全性进行探讨。方法收集2例于2021年7、10月在湖南省儿童医院神经内科就诊的癫痫患儿,总结其症状体征和血液、脑脊液、影像学、电生理检查结果及其诊疗过程等临床资料及患儿的全外显子组测序结果,分析应用拉考沙胺治疗低龄婴儿SCN2A基因突变钠离子通道疾病的疗效及安全性,同时检索美国国立医学图书馆生物医学文献数据库、万方数据知识服务平台和中国知网等数据库中的相关文献进行复习。结果2例患儿均为女性,均于出生后3个月内起病,因频繁抽搐并发育落后入院。血液生化及脑脊液检查、血尿代谢筛查无异常,头颅影像学检查无结构异常。病例1基因检测结果显示SCN2A基因(chr2:166152333-166246334)杂合缺失,SCN1A基因(chr2:166847754-16693013)杂合缺失,缺失大小约为5.72 Mb。4 h动态脑电图检测到局灶性电/临床发作35次(持续状态?),予咪达唑仑及左乙拉西坦治疗后,发作不能控制,加用拉考沙胺后发作完全控制。例2基因检测结果提示SCN2A基因存在新发错义突变(c.1285G>A,p.Glu429Lys),患儿每日发作数十次,脑电图监测到3次左侧颞区起源局灶性发作,先后予苯巴比妥、丙戊酸、奥卡西平、左乙拉西坦治疗,发作不能控制,加用拉考沙胺后第3天起未再发作。2例患儿门诊随诊半年余无发作,无明显药物不良反应。结论钠离子通道相关癫痫脑病发病年龄早,发作频繁,可同时伴有精神运动发育落后。慢钠通道阻断剂拉考沙胺对SCN2A基因突变或同时合并SCN1A基因突变的钠离子通道相关癫痫有较好的疗效及安全性。Objective To report 2 young infants of sodium channel related epilepsy with SCN2A gene mutation,and to discuss the clinical characteristics of the disease and the efficacy and safety of lacosamide combined with the literature.Methods Corresponding information of 2 children hospitalized in the Department of Neurology of Hunan Children′s Hospital in July 2021 and October 2021 was collected,including the symptoms,comprehensive physical examination,blood,cerebrospinal fluid,imaging,electrophysiological examination,diagnosis and treatment process,response to treatment and other clinical data,as well as the sequencing results of the whole exome of the children.The efficacy and safety of lacosamide were analyzed,and the related literatures of the Biomedical Literature Database,Wanfang Data Knowledge Service Platform and Chinese Knowledge Infrastructure Database were searched and reviewed.Results Both of the 2 cases were girl.Their onset age was within 3 months.The initial symptoms were frequent convulsions and backward development.There was no structural abnormality in the head image.The convulsions could not be controlled according to conventional multidrug treatment.The seizures were quickly controlled with lacosamide.Now they have been followed up for 6 months.No obvious adverse reactions were found.Case 1 gene test results showed the SCN2A gene(chr2:166152333-166246334)heterozygous deletion,SCN1A gene(chr2:166847754-16693013)heterozygous deletion,the deletion size being about 5.72 Mb.Case 2 gene test results showed new missense mutation of SCN2A(c.1285G>A,p.Glu429Lys).There were dozens of seizures every day.They were treated with valproic acid,oxcarbazepine and levetiracetam successively.The seizures could not be controlled.Three focal seizures originated in the left temporal region were detected by electroencephalogram.There was no recurrence on the third day after adding lacosamide,and there was no attack after 5 months of follow-up.No obvious adverse reactions were found during follow-up.Conclusions Sodium chan

关 键 词：婴儿 癫痫 钠通道 钠通道阻滞剂 拉考沙胺 

分 类 号：R742.1[医药卫生—神经病学与精神病学]