早发性癫痫脑病伴暴发-抑制脑电图患儿30例的病因与临床特点分析  

Etiological analysis and clinical characteristics of 30 patients with early-onset epileptic encephalopathy with burst-suppression electroencephalogram

作　　者：邓劼[1] 方方[1] 王晓慧[1] 陈春红[1] 王旭[1] 卓秀伟[1] 代丽芳[1] 李华[1] 郑旭 郑侠 杨子馨 沈艳华 Deng Jie;Fang Fang;Wang Xiaohui;Chen Chunhong;Wang Xu;Zhuo Xiuwei;Dai Lifang;Li Hua;Zheng Xu;Zheng Xia;Yang Zixin;Shen Yanhua(Department of Neurology,Beijing Children′s Hospital,Capital Medical University,National Center of Children′s Health,Beijing 100045,China;Department of Neonatology,Beijing Children′s Hospital,Capital Medical University,National Center of Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院神经科,100045 [2]国家儿童医学中心,首都医科大学附属北京儿童医院新生儿中心,100045

出　　处：《中华实用儿科临床杂志》2020年第24期1853-1857,共5页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的分析早发性癫痫脑病伴暴发-抑制(EOEE-BS)脑电图患儿的病因,总结临床特点,为治疗选择及预后评估提供线索。方法收集首都医科大学附属北京儿童医院神经科2016年9月至2019年4月收治的EOEE-BS患儿,回顾性分析其临床资料。结果入组30例,男11例、女19例。24例(80%)检测到致病性/可能致病性基因变异,分别为KCNQ28例、SCN2A 5例、STXBP15例,CDKL5、KCNT1、KCNQ3、HUWE1、MTHFR、NOTCH3各1例,新生变异18例、遗传性变异6例;9例存在脑发育畸形,为多微小脑回伴或不伴巨脑,其中4例合并上述钾或钠离子通道基因变异;病因不明2例。起病年龄2.5 h^4个月,中位年龄4 d。以局灶性起源的强直/强直-阵挛发作起病25例,其中14例合并或转型为痉挛发作;以痉挛发作起病5例。脑电图监测到暴发-抑制的年龄为3 d^9月余,于1~10月龄转变为高度失律或多灶性痫样放电。应用1~6种抗癫痫药物,13例应用钠离子通道阻滞剂患儿中11例有效,7例联合生酮饮食均有效。25例随访6个月~3年,13例于1月余~1.5岁抽搐缓解,但均有不同程度发育落后。结论EOEE-BS中超过半数患儿由单基因变异致病,起病早,发作类型及脑电图可随年龄增长而转变。预后与病因有关,离子通道基因变异者应用离子通道阻滞剂抗癫痫疗效较好。Objective To analyze the etiology of early-onset epileptic encephalopathy with burst-suppression(EOEE-BS)electroencephalogram,and summarize its clinical features,provide clues for treatment selection and prognosis evaluation.Methods EOEE-BS patients who were admitted to the Department of Neurology,Beijing Children′s Hospital Affiliated to Capital Medical University from September 2016 to April 2019 were enrolled,so as to retrospectively analyze clinical resources.Results Thirty children were enrolled,with 11 males and 19 females.Pathoge-nic/likely pathogenic gene variations were detected in 24 cases(80%),with KCNQ2 in 8 cases,SCN2A in 5 cases,STXBP1 in 5 cases,and CDKL5,KCNT1,KCNQ3,HUWE1,MTHFR and NOTCH3 all in 1 case.Among them,18 cases suffered from de novo variations,and 6 cases experienced hereditary variations.Nine cases had brain malformation that was polymicrogyria with or without megalencephaly,and 4 cases were combined with potassium or sodium channel gene variation.Two cases displayed unknown etiology.The onset age was from 2.5 hours to 4 months,and the median age was 4 days.Twenty-five cases were onset with focal onset tonic/tonic-clonic seizures,among which 14 cases were evolved into or combined with spasms during the follow-up,while 5 cases were onset with epileptic spasms.BS was monitored by electroencephalogram(EEG)aged from 3 days to 9 months,and evolved to hypsarrhythmia or multiple epileptiform discharges at 1-10 months old.Patients were treated with 1-6 antiepileptic drugs,13 cases were treated with sodium channel blocker,and 11 cases were effective.Ketogenic diet was effective for all 7 cases.Twenty-five patients were followed-up between 6 months and 3 years,and 13 cases were seizure-free aged from 1 month to 1.5 years old.Howe-ver,they all had psychomotor retardation in various degrees.Conclusions More than half of EOEE-BS is caused by single gene variation.Seizure type and EEG would change with age.Its prognosis is associated with etiology.Ion channel blocker may have effect on patients wi

关 键 词：早发性癫痫脑病 暴发-抑制 病因 基因变异 

分 类 号：R742.1[医药卫生—神经病学与精神病学]