摘要目的 分析Angelman综合征(AS)的临床表现、脑电图(EEG)特征以及基因结果,探讨生酮饮食(KD)对AS难治性癫(痫)的近期疗效.方法 回顾性分析2012年1月至2013年12月复旦大学附属儿科医院神经科诊断的8例AS患儿的临床表现及EEG特征,并对治疗及预后进行随访.结果 8例AS患儿中男4例,女4例.临床均(100％)表现为大笑或愉快时微笑、全面发育迟滞和运动障碍,4例患儿头围偏小或小头畸形.7例患儿(88％)有癫(痫)发作且发作形式多种,主要为肌阵挛、不典型失神、失张力和部分继发全面性发作等,癫(痫)发病年龄6个月～2岁9个月,4例(57％)有肌阵挛持续状态.EEG特征为前头部、后头部或广泛性δ及θ节律性发放,慢波多呈游走性,并夹杂棘波、棘慢波,棘慢波多在后头部突出.所有患儿采用基因组DNA甲基化特异性多重连接探针扩增技术(MS-MLPA)进行检测,其中6例患儿(75％)证实存在染色体15q11PWS/AS相关区域基因的拷贝数缺失.7例患儿为多种抗癫(痫)药物联合治疗,6例(86％)为药物难治性癫(痫),3例患儿给予KD治疗,治疗1个月时2例有效,1例无效,3个月时1例发作完全缓解,1例有效,1例无效.结论 AS具有相对特征性的临床和EEG表现,结合基因检查可帮助诊断,癫(痫)发生率高,肌阵挛持续状态多见,且多为药物难治性癫(痫),KD可作为AS难治性癫(痫)治疗的选择.

abstractsObjective To explore the clinical and electroencephalogram (EEG) characteristics,genetic data and the effect of ketogenic diet (KD) for children with Angelman syndrome (AS).Methods The clinical and EEG characteristics of 8 patients with AS at the Department of Neurology,Children's Hospital of Fudan University from Jan.2012 to Dec.2013 were analyzed retrospectively.The treatment and prognosis were also followed up.Results Of 8 patients,there were 4 male and 4 female.All patients (100％) had apparently happy demeanor or smile,general developmental delay and movement disorder,and head circumference of 4 patients was smaller or microcephaly diagnosed.Epilepsy was present in 7 cases(88％) with onset age from 6 to 33 months.Most frequent types were myoclonic seizures,atypical absences,atonic seizures and generalized tonic-clonic seizures.Myoclonic status epilepticus was present in 4 cases(57％).Rhythmic delta and theta in the anterior,the posterior and the generalized areas mixing with spikes and ware waves were the characteristic EEG patterns.Genetic testing by methylation specificity multiple link probe amplification techniques(MS-MLPA) was done for all patients,6 cases (75％) were confirmed with a maternal deletion involving the chromosome 15ql 1 PWS/AS critical region.Seven patients were treated with multiple antiepileptic drugs,while 6 patients(86％) belonged to refractory epilepsy.Three cases were treated with KD,1 month after KD,seizure improved effectively in 2 cases,but 1 case had no improvement,3 months after KD,1 case got seizure free,and 1 case had seizure reduced effectively,while 1 case with seizure had no improvement.Conclusions There are relative and characteristic EEG manifestations clinically in AS and the diagnosis can be assisted by genetic test.Epilepsy is common and myoclonic status epilepticus is also frequent in AS.Epilepsy in AS is often hard to control but KD can be used as a treatment option for AS with refractory epilepsy.