生酮饮食治疗SCN2A基因相关发育性癫痫性脑病的疗效观察(附1例报告)  

Efficacy of ketogenic diet in the treatment of SCN2A gene-related developmental epileptic encephalopathy(report of one case)

作　　者：孙莹[1] 段丽芬[1] 尹润秀 张艺 叶磊[1] 余伟[1] SUN Ying;DUAN Lifen;YIN Runxiu(Department of Epilepsy Center,Kunming Children’s Hospital,Kunming 650000,China)

机构地区：[1]昆明市儿童医院癫痫中心,650000

出　　处：《临床神经病学杂志》2025年第1期48-51,共4页Journal of Clinical Neurology

基　　金：昆明市卫健委卫生科研课题项目(2022-06-01-011);云南省教育厅科学研究基金项目(2023J0299)。

摘　　要：目的探讨生酮饮食治疗SCN2A基因相关发育性癫痫性脑病的疗效。方法回顾性分析1例采用生酮饮食治疗的以发育落后、癫痫性痉挛发作为主要表现的SCN2A基因变异相关发育性癫痫性脑病患儿的临床资料。结果患儿5月龄时出现癫痫性痉挛发作,EEG提示高度失律并监测到癫痫性痉挛发作,基因检查提示SCN2A基因存在c.5317G>A(p.Ala1773Thr)新发杂合错义变异。患儿经多种抗发作药治疗后无效,后使用生酮饮食治疗起效。随访11个月,患儿发作完全控制,认知进步。结论生酮饮食可以用来治疗SCN2A基因相关的发育性癫痫性脑病,对于年龄小的患者也能取得较好的疗效。Objective To investigate the efficacy of ketogenic diet in the treatment of SCN2A gene-related developmental epileptic encephalopathy.Methods The clinical data of a child with developmental epileptic encephalopathy associated with SCN2A gene mutation,whose main manifestations were developmental retardancy and epileptic spasm,and treated with ketogenic diet was retrospectively analyzed.Results Epileptic spasm onset at 5 months old.The EEG showed hypsarrhythmia and the epileptic spasm was monitored.Genetic examination revealed a new heterozygous missense mutation of c.5317 G>A(p.Ala1773Thr)in SCN2A gene.The child was not effective after treatment with a variety of anti-seizure drugs,and was effective after treatment with ketogenic diet.The followup for 11 months showed that the seizure of the child was completely controlled and cognitive progress was made.Conclusion The ketogenic diet can be used to treat SCN2A gene-related developmental epileptic encephalopathy,and it can also achieve better results for younger patients.

关 键 词：癫痫 早发癫痫性脑病 SCN2A基因 基因变异 生酮饮食 

分 类 号：R742[医药卫生—神经病学与精神病学]