晚发型癫痫性痉挛患儿临床特征及生酮饮食近期疗效分析

目的 分析晚发型癫痫性痉挛患儿临床特征、诊断和治疗。方法 回顾性收集2012年3月至2013年12月在复旦大学附属儿科医院神经科收治的晚发型癫痫性痉挛患儿的临床资料、EEG及抗癫痫药物治疗情况，并评估生酮饮食（KD）的近期疗效。结果 ①18例晚发型癫痫性痉挛患儿进入分析，均经长程视频EEG监测到癫痫性痉挛发作，男13例，女5例，年龄2~10岁（中位年龄5.5岁）。癫痫起病年龄1~8岁（中位年龄3岁）；病程1~72个月（中位病程9个月）。②首次发作为癫痫性痉挛4例（22.2%），其他发作类型14例（77.8%）。③发作间期EEG呈典型高度失律4例(22.2%)。④7例为症状性癫痫（病毒性脑炎后遗症4例，围生期脑损伤3例），另11例病因不明，18例均有不同程度精神运动发育落后。⑤在电-临床综合征分类上，符合晚发型婴儿West综合征4例，Lennox-Gastaut综合征4例。⑥18例在抗癫痫药物治疗期间随访3~24个月，抗癫痫药物治疗末次随访时单药治疗2例，多种抗癫痫药物治疗16例；4例维持无发作，14例（77.8%）为药物难治性癫痫。8例药物难治性癫痫患儿接受KD治疗，治疗3个月末完全无发作3例，有效2例，无效3例，有效率62.5%(5/8)，完全无发作率37.5%(3/8)。8例均能耐受KD且均未观察到明显的不良事件。结论 儿童晚发型癫痫性痉挛发作不仅见于West综合征，也可见于其他癫痫性脑病，EEG缺乏特征性高度失律，多为药物难治性癫痫，KD治疗安全且具有一定的近期疗效。

Analysis of clinical features and the effect of ketogenic diet in children with late-onset epileptic spasms

Objective To explore the clinical manifestations and electroencephalogram (EEG) features, causes and the effect of ketogenic diet (KD) for children diagnosed as pharmacoresistant late-onset epileptic spasms (LOES).Methods The clinical and EEG characteristics and the effect of antiepileptic drugs (AEDs) in 18 children with LOES were analyzed retrospectively. The effectiveness of one week, one month and three months after KD therapy for 8 children with pharmacoresistant LOES was evaluated. Results Eighteen children including 13 boys and 5 girls aged from 2 to 10 years with the median age of 6 years and 6 months were included. The onset age of epileptic seizures ranged from 1 year to 8 years with the median age of 3 years. The course of epilepsy ranged from 1 to 72 months with the median age of 9 months. The first seizure type was epileptic spasms in 4 cases and other seizure types in 14 children (77.8%). Interictal EEG showed classic hypsarrhythmia in 4 cases and no hypsarrhythmia in 14 cases (77.8%) of which multifocal discharges could be dentified obviously in temporofrontal regions. Developmental delay presented in all cases and 7 cases (44.4%) were symptomatic epilepsies, of which the commonest causes were central nervous system infection and perinatal insults, while 11 cases (61.1%) had unknown causes. Four patients fulfilled the entry criteria of late-onset West syndrome and 4 patients were diagnosed as Lennox-Gastaut syndrome. Eighteen patients were followed up for 3 to 24 months during AEDs treatment and the majority of the children were on valproate in monotherapy (n=2) or in combination with other AEDs (n=16) at the last follow up. Fourteen patients (77.8%) were diagnosed with pharmacoresistant epilepsy and 8 cases of them received KD therapy. Greater than 50% seizure reduction was achieved in 2 of 8 cases at one week, 3 of 8 cases at 1 month and 5 cases (62.5%) at 3 months after KD therapy. Seizure free was achieved in 1 of 8 case at one month and 3 cases (37.5%) at 3 months after KD therapy. Eight patients treated with KD was well tolerated and adverse effects were not found.Conclusion Children with LOES not only occur in West syndrome, but also in other epileptic encephalopathy. Interictal EEG does not show classic hypsarrhythmia in most patients generally. Most LOES are refractory epilepsy and the KD is a safe and potentially effective method of treatment for children with LEOS.