CAJ | 학술논문

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.
목적 분석Angelman종합정(AS)적림상표현、뇌전도(EEG)특정이급기인결과,탐토생동음식(KD)대AS난치성전(간)적근기료효.방법 회고성분석2012년1월지2013년12월복단대학부속인과의원신경과진단적8례AS환인적림상표현급EEG특정,병대치료급예후진행수방.결과 8례AS환인중남4례,녀4례.림상균(100％)표현위대소혹유쾌시미소、전면발육지체화운동장애,4례환인두위편소혹소두기형.7례환인(88％)유전(간)발작차발작형식다충,주요위기진련、불전형실신、실장력화부분계발전면성발작등,전(간)발병년령6개월～2세9개월,4례(57％)유기진련지속상태.EEG특정위전두부、후두부혹엄범성δ급θ절률성발방,만파다정유주성,병협잡극파、극만파,극만파다재후두부돌출.소유환인채용기인조DNA갑기화특이성다중련접탐침확증기술(MS-MLPA)진행검측,기중6례환인(75％)증실존재염색체15q11PWS/AS상관구역기인적고패수결실.7례환인위다충항전(간)약물연합치료,6례(86％)위약물난치성전(간),3례환인급여KD치료,치료1개월시2례유효,1례무효,3개월시1례발작완전완해,1례유효,1례무효.결론 AS구유상대특정성적림상화EEG표현,결합기인검사가방조진단,전(간)발생솔고,기진련지속상태다견,차다위약물난치성전(간),KD가작위AS난치성전(간)치료적선택.
Objective 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.