【摘要】 目的探讨Angelman综合征的临床特点及诊断方法,提高对Angelman综合征的认识。方法回顾性分析1例Angelman综合征家系患者的临床表现、脑电图及基因检测结果。结果先证者,男性,12岁,出生后全面性发育迟缓,3岁能独走,语言发育落后。因"反复抽搐10年余"入院。查体:患儿小头畸形,频繁大笑,能独立行走但不稳,语言发育落后,智力发育明显落后于同龄儿童,四肢肌张力稍增高,脑膜刺激征阴性,锥体束征阴性,腱反射正常引出。视频脑电图显示醒、睡各期额区、枕区广泛性δ、θ节律阵发或连续发放,夹杂棘波、棘慢波,以枕区显著;额区以δ节律活动为主,有时为三相波发放。基因检测:15q11-13片段甲基化分析及全外显子基因检测结果示泛素蛋白连接酶E3A（UBE3A）基因NM₁30838:c.2478delT（p.L826fs）变异。诊断为Angelman综合征。先证者母亲有精神运动发育迟滞,幼儿时有癫■病史,先证者双胎弟弟有类似临床表现,基因检测验证均为UBE3A基因NM₁30838:c.2478del T （p.L826fs）变异。予左乙拉西坦与丙戊酸联合治疗后随访3个月未见癫■发作。结论Angelman综合征主要临床表现为精神发育迟滞、语言障碍、运动及平衡障碍、快乐行为、小头畸形和癫■,脑电图具有相对特异性。遗传方式多样,母源性UBE3A基因变异少见,行遗传检测以免漏诊,有家族史的家系成员可以行遗传咨询达到优生优育。更多还原

【Abstract】 Aim To explore the clinical features and diagnostic methods of Angelman syndrome. Methods The clinical manifestations, neuroelectrophysiology and genetic test results of a family with Angelman syndrome were retrospectively analyzed. Results A 12 year-old boy with general developmental retardation after birth, can walk alone at 3 years old, and only can speak “mom” and other words unconsciously by now, with a history of epilepsy for 10 years, microcephaly physical signs, frequent laughter, walking alone but instability, language development and intelligence development lag behind. The EEG indicated there were extensive delta and theta rhythmic bursts or continuous flashes in the front and back of the head, accompanied by spike waves and spike-slow waves. Gene detection revealed UBE3 A gene NM＿130838: C. 2478 DELT(p.L826 FS) mutation, making a diagnosis of Angelman syndrome. The mother of the proband had psychomotor retardation and a history of epilepsy at a young age, and the younger brother of the proband had similar clinical manifestations. Genetic verification showed UBE3 A gene NM＿130838: C.2478 DELT(P.L826 Fs) variation. Conclusion The main clinical manifestations of Angelman syndrome include mental and language retardation, movement and balance disorder, happy behavior, microcephaly, epilepsy. The EEG is helpful in diagnosis. The genetic pattern is diverse, and the variation of maternal UBE3 A gene is rare. Genetic testing method could be used to avoid missed diagnosis. Those with family history should receive genetic counseling to achieve a good birth and upbringing.更多还原