中国实用儿科杂志

中国实用儿科杂志 ›› 2011, Vol. 26 ›› Issue (07): 519-.

• 论著 • 上一篇    下一篇

Angelman综合征临床及脑电图特征?

  

  1. 北京大学第一医院儿科，北京　100034
  • 出版日期:2011-07-06 发布日期:2011-07-06

Clinical and EEG characteristics of Angelman syndrome.　

  1. Department of Pediatrics， Peking University First Hospital，Beijing 100034，China
  • Online:2011-07-06 Published:2011-07-06

摘要：

分析Angelman综合征（AS）的临床及脑电图（EEG）特征，提高临床对本病早期而准确的认识。方法 　分析2006年1月至2009年11月北京大学第一医院儿科神经门诊、病房及EEG监测室8例经遗传学确诊的AS患儿临床及EEG特征，并对治疗及预后进行随访。结果　8例中男6例，女2例。均存在全面发育特别是语言发育延迟、运动障碍、表情快乐并伴与环境不相适应的笑，部分患儿有异常的特征性面部表现。均有癫痫发作，起病年龄为6个月至2岁，发作包括热性惊厥、不典型失神发作、部分性发作、肌阵挛发作、部分继发全面性发作，3例有癫痫持续状态。EEG监测年龄为1岁7个月至7岁，图形特征为醒睡各期前头部、后头部及广泛性δ及θ节律性阵发或连续发放，慢波在多部位之间常呈游走性，并见夹杂棘波、棘慢波，5例棘慢波以后头部突出。均经遗传学检测而确诊，其中7例为来源于母源染色体15q11-13的大片段缺失。2例影像学证实有脑白质发育异常。随访时年龄为2岁5个月至9岁3个月，随访时间1～8年。癫痫治疗主要为丙戊酸单药或联合其他抗癫痫药，3例发作控制，4例发作明显减少，1例无改善。随访时5例能独立行走但不稳，1例仅能说简单词汇，7例语言始终无发育。结论　AS具有较为特征的临床及EEG异常，EEG监测为本病一项非常敏感的筛查方法，不仅能证实癫痫发作，并能在临床出现明显症状及遗传学诊断前提示本病。本病的癫痫发生率高，但癫痫严重程度与发育障碍严重程度之间无必然相关性。

关键词: Angelman综合征, 癫痫, 脑电图

Abstract:

To investigate the clinical and electrophysiological characteristics of Angelman syndrome （AS） and improve early and accurate clinical diagnosis. Methods　The clinical and EEG characteristics in 8 patients with AS confirmed by genetic diagnosis were analyzed. The treatment and prognosis were also followed up. Results　Of the 8 patients，6 were male and 2 were female. All patients had comprehensive，particularly language developmental delay，movement disorder， happy demeanor with laugh incompatible with the environment，and dysmorphic facial features existed in some patients. Seizures occurred in all patients with onset age from 6m to 2y.Seizure types included febrile seizure，atypical absence seizure，partial seizure，myoclonic seizure and secondary generalized seizures. Epileptic status occurred in 3 patients. EEG monitoring age was from 1y6m to 7y.The characteristic EEG pattern manifested as rhythmic delta and theta in anterior，posterior and generalized areas mixing spikes，and spike and waves which mainly distributed in posterior area in 5 patients. The slow waves often had migratory between the different sites. All patients were diagnosed by genetic examination，7 of whom were with a maternal deletion involving chromosome 15q11-13.Imaging found white matter abnormalities in 2 patients. The age at follow-up ranged from 2y5m to 9y3m with interval from 1y to 8y. Valproic acid only or combined with other antiepileptic drugs was used to treat seizures. Seizure free was observed in 3 cases，seizure obvious reduction in 4 cases and seizure no improvement in 1 case. Five patients could walk independently，but unsteadily at the last follow-up. Only one patient was able to speak a few meaningful words，while the other 7 patients showed no language development. Conclusion　There is characteristic clinical and EEG abnormality in AS.EEG monitoring is a very sensitive screening method for AS，which can not only determine epileptic seizure，but also prompt AS before clinical symptoms and genetic diagnosis. The incidence of epilepsy in AS is very high，but the severity of epilepsy is not necessarily related to the degree of developmental disturbance.

Key words: Angelman syndrome, epilepsy, electroencephalogram