Angelman综合征的临床及脑电图特征  

Clinical and electroencephalogram features of Angelman syndrome

作　　者：陈新[1] 卢孝鹏[2] CHEN Xin;LU Xiao-peng(Center of Electrophysiology,Children’s Hospital Affiliated to Nanjing Medical University,Nanjing 210008,China;不详)

机构地区：[1]南京医科大学附属南京儿童医院神经电生理中心,210008 [2]南京医科大学附属南京儿童医院神经内科,210008

出　　处：《临床神经病学杂志》2022年第4期275-279,共5页Journal of Clinical Neurology

摘　　要：目的 探讨Angelman综合征(AS)的临床及EEG特征。方法 回顾性分析11例AS患儿的临床资料。结果 11例患儿均有不同程度的全面性精神运动发育迟缓,语言运动发育迟缓最为突出。8例(72.7%)为母源性染色体15q11.2-q13.1区域缺失,1例(9.1%)为15号染色体为父源性单亲二倍体(UPD),2例(18.2%)为UBE3A基因点突变(移码突变)。21次视频EEG(VEEG)监测中,6例(54.5%)监测到9次不典型失神发作。11例患儿VEEG均异常(100%),符合AS特征性EEG异常改变,且在病程中EEG异常持久稳定。UPD型患儿较其他分型EEG异常程度轻。100%(2/2)移码突变的患儿、12.5%(1/8)染色体片段缺失患儿服用2或3种抗癫痫药,1例UPD患儿未出现抽搐,未服抗癫痫药。结论 母源性染色体片段缺失为AS主要发病病因。不典型失神为常见的癫痫发作类型,AS患儿特征性异常EEG持久且稳定,大量的δ波振荡是最突出的EEG表型。UPD型VEEG异常程度较轻,癫痫发作少见。Objective To investigate clinical and EEG characteristics of Angelman syndrome(AS).Methods The clinical data of 11 children with AS were retrospectively analyzed.Results All 11 children had general mental and motor developmental delay of different degrees,especially motor and language development delay.Eight cases(72.7%) have chromosomal deletion from 15 q11.2-q13.1 on the maternal allele,1 case(9.1%) due to paternal uniparental disomy(UPD) of the chromosome,2 cases(18.2%) have mutations within UBE3A gene(frameshift mutation).Atypical absence seizures were detected in 6 children 9 times during the 21 times examination.All 11 children(100%) had abnormal video EEG(VEEG) results,and there were consistent with AS characteristic EEG change,and during AS EEG abnormality lasts long and steady.Children with UPD genotype had a lower abnormality degree than other genotypes.100% of children(2/2) with frameshift mutation and 12.5% of children(1/8) with deletion of chromosome take 2 or 3 antiepileptic drugs;1 UPD case without convulsion and didn’t take antiepileptic drugs.Conclusions Maternal deletion of the chromosome is the main cause of AS.Atypical absence is a common type of seizure.AS characteristic EEG abnormality lasts long and steady,excess δ oscillations are the most prominent AS EEG phenotype.UPD genotype has a lower degree of VEEG abnormality and fewer seizures.

关 键 词：ANGELMAN综合征 视频EEG 基因缺陷分型 

分 类 号：R741[医药卫生—神经病学与精神病学]