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中国循证儿科杂志

中国循证儿科杂志 ›› 2019, Vol. 14 ›› Issue (1): 8-13.

• 论著 • 上一篇    下一篇

基于规范化诊治与管理的234例儿童癫性脑病病例系列报告

李奕洁1，杜晓楠1，吴冰冰2，姜永辉3，郑静4，陈光福4,5，王艺1,5   

  1. 1 复旦大学附属儿科医院神经内科 上海，201102；2 复旦大学附属儿科医院分子诊断中心 上海，201102；3 美国杜克大学；4 深圳市第二人民医院/深圳大学第一附属医院儿科 深圳，518035
  • 收稿日期:2018-10-15 修回日期:2019-01-13 出版日期:2019-02-25 发布日期:2019-02-25
  • 通讯作者: 陈光福, 王艺

Etiology and prognosis of 234 patients with epileptic encephalopathies in childhood

LI Yi-jie1, DU Xiao-nan1, WU Bing-bing2, JIANG Yong-hui3,  ZHENG Jing4, CHEN Guang-fu4,5, WANG Yi1,5   

  1. 1 Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China; 2 The Molecular Genetic Diagnosis Center, Children's Hospital of Fudan University, Shanghai 201102, China; 3 Duke University School of Medicine, America; 4 Department of Pediatrics, Shenzhen Second People's  Hospital/ First Affiliated Hospital of Shenzhen University, Shenzhen 518035, China
  • Received:2018-10-15 Revised:2019-01-13 Online:2019-02-25 Published:2019-02-25
  • Contact: CHEN Guang-fu, WANG Yi

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摘要： 目的 探讨儿童癫性脑病(EE)的病因及预后。方法 回顾性分析儿童EE的临床资料，行病因学分析，并随访其疗效及预后。结果 234例EE患儿，包括West综合征92例，Dravet综合征53例，Lennox-Gastaut综合征32例，Landau-Kleffner综合征15例，大田原综合征13例，伴睡眠期持续棘慢波的癫性脑病10例，肌阵挛-失张力癫2例，Rasmussen综合征2例，15例未能归为已知的癫综合征。病因：遗传相关67.9%（基因诊断明确为遗传性31.2%），结构性12.0%，感染性4.7%，代谢性和免疫性各0.9%，病因不明19.2%。治疗有效率：药物33.8%（79/234），生酮饮食47.3%（35/74），外科手术60.0%（3/5），迷走神经刺激术（VNS）44.4%（4/9）；综合治疗（单纯药物治疗或在药物治疗基础上行生酮饮食/外科手术/VNS治疗）有效率48.7%。预后：发病后首次智能发育评估，223例（95.3%）存在发育异常；治疗后（随访病程中位数44月）智能发育随访，215例（91.9%）存在发育异常。结论 遗传性病因是EE的首要病因，仅1/3抗癫药物治疗有效，随访发现智能发育异常率高，总体预后不良。

Abstract: Objective To investigate the etiology and prognosis of epileptic encephalopathies(EEs) in children. Methods We reviewed the clinical data of patients with EEs in childhood to analyze their etiologies. The therapeutic effect and development outcome were followed up. Results We enrolled 234 cases of EEs, including West syndrome (n=92), Dravet syndrome (n=53), Lennox-Gastaut syndrome (n=32), Landau-Kleffner syndrome (n=15), Ohtahara syndrome (n=13), epileptic encephalopathy with continuous spike-and-wave during sleep (n=10), myoclonic-atonic epilepsy (n=2), Rasmussen syndrome (n=2), and the unclassified 15 cases. Genetic etiology accounted for 67.9% (31.2% confirmed by gene detection), structural for 12.0%, infectious for 4.7%, metabolic and immunogenic for 0.9% respectively, and 19.2% remained unknown. The effective rates of antiepileptic drugs (AEDs), ketogenic diet, surgery and vagus nerve stimulation (VNS) were 33.8% (79/234), 47.3% (35/74), 60.0% (3/5) and 44.4% (4/9) respectively.The effective rate of comprehensive treatment (drug treatment alone or ketogenic diet/surgery/VNS based on drug treatment) was 48.7%. Development outcome was that 223 cases (95.3%) showed developmental retardation in the first intelligence assessment after onset and 215 cases (91.9%) showed developmental retardation after treatment (median follow-up duration: 44 months). Conclusion Genetic etiology was the primary cause of EEs. AEDs were effective in only one-third of cases, and the incidence of developmental retardation was high, leading to poor prognosis. Multidisciplinary diagnosis and treatment (MDT) played a key role in the diagnosis and management of EEs.