SCN2A基因突变导致大田原综合征2例报告及文献复习  

Ohtahara syndrome caused by SCN2A gene mutation in 2 children: a case report and literature review

作　　者：苗圃 王健达 郭雨帆 冯建华[1] MIAO Pu;WANG Jianda;GUO Yufan;FENG Jianhua(The Second Affiliated Hospital of Zhejiang University School of Medicine,Hangzhou 310009,Zhejiang,China)

机构地区：[1]浙江大学医学院附属第二医院,浙江杭州310009

出　　处：《临床儿科杂志》2019年第3期223-227,共5页Journal of Clinical Pediatrics

基　　金：国家自然科学基金青年科学基金项目(No.81600988)

摘　　要：目的分析由SCN2A基因突变导致的大田原综合征(SCN2A-OS)表型特点及苯妥英钠的临床应用。方法回顾分析2017年10月诊治的2例SCN2A-OS患儿的表型特点,临床诊疗经过及预后,并复习相关文献。结果 2例患儿均为男性,分别于生后1天及2个月余起病,均表现为痉挛、强直发作,发育迟缓。脑电图示暴发抑制。多种抗癫痫药物治疗效果不佳。苯妥英钠治疗有效,近期随访未见明显不良反应。例1检测出SCN2A基因c.2995G>A(NM_021007)新发错义突变;例2检测出c.4015A>G新发错义突变。目前国内外共报道SCN2A-OS患儿25例,癫痫起病年龄波动在生后1天至60天(中位年龄1天),首次发作形式以强直发作最为常见;脑电图为典型暴发抑制,52%后期转变为高度失律;治疗随访中共11例患儿抽搐控制,9例使用苯妥英钠有效。结论 SCN2A-OS起病年龄早,预后差,多种抗癫痫药物治疗效果不佳,经典抗癫痫药物苯妥英钠可有效控制SCN2A-OS的癫痫发作。Objective To explore the phenotypic characteristics of Ohtahara syndrome caused by SCN2A gene mutation ( SCN2A-OS) and clinical application of phenytoin sodium. Method The phenotypic characteristics, clinical diagnosis, treatment and prognosis in 2 children with SCN2A-OS diagnosed and treated in October 2017 were retrospectively analyzed, and the related literature was reviewed. Results Both the two children were male, and the age at onset of the disease was 1 day and 2 months respectively. Both of them had spasm and tonic seizures and developmental delay. Electroencephalogram (EEG) results showed burst-suppression. Many kinds of antiepileptic drugs were ineffective. The treatment with phenytoin was effective, and no obvious adverse reactions were observed in the recent follow-up. A new missense mutation of SCN2A gene, c.2995G>A (NM_021007), was detected in case 1, and another new missense mutation of c.4015A>G was detected in case 2, and both were the first reported. At present, 25 children with SCN2A-OS have been reported at home and abroad. The onset age of epilepsy fluctuated from 1 day to 60 days after birth (median age was 1 day), and the most common initial epilepsy type was tonic seizure. EEG of all children showed typical burst-suppression features and 52% of them turned to hypsarrhythmia later. During follow-up period, seizure free was in 11 children and phenytoin was effective in 9 children. Conclusion SCN2A-OS patients have seizure onset at early age, poor prognosis and poor response to multi-antiepileptic drugs. Phenytoin could control seizure effectively.

关 键 词：SCN2A基因 大田原综合征 苯妥英钠 

分 类 号：R742.1[医药卫生—神经病学与精神病学]