Angelman综合征婴儿期的临床表现和脑电图特征  

Clinical and electroencephalogram characteristics of Angelman syndrome in infancy

作　　者：马秀伟 温秀芳 辜蕊洁 封志纯 

机构地区：[1]陆军总医院附属八一儿童医院神经发育科,北京100700

出　　处：《发育医学电子杂志》2016年第4期223-228,共6页Journal of Developmental Medicine (Electronic Version)

基　　金：中国博士后科学基金(20100471758)

摘　　要：目的 探讨Angelman综合征婴儿期的临床和视频脑电图（video-electroencephalogram,VEEG）特征,为早期诊断Angelman综合征提供参考。方法 2010年9月至2015年9月,陆军总医院附属八一儿童医院神经发育科共诊治10例Angelman综合征婴儿,就诊时月龄为6-12个月,分析其临床表现、VEEG特征、遗传学检查结果、治疗及预后。采用Gesell发育量表评估发育商,判断发育迟缓程度。结果 10例患儿均因发育迟缓就诊,6例曾于院外诊断脑性瘫痪。5例出现癫痫发作,2例出现癫痫持续状态。5例出现表情快乐伴有与环境不相适应的笑,2例出现睡眠障碍,7例头围小,5例枕平,4例毛发黄、皮肤白,3例嘴大、下颌突出。7例患儿为中-重度发育迟缓,所有患儿均为中-重度语言发育迟缓。10例VEEG均显示醒-睡各期广泛性高-极高波幅慢波阵发或连续发放,清醒期多以后头部为主,前头部亦可出现,慢波阵发可呈游走性,其中可夹杂棘波、尖波。遗传学检查发现,10例患儿均在染色体15q11-13区域存在异常改变。随访半年至5年,1岁内未出现癫痫的4例患儿在随访过程中3例出现了癫痫发作;存活患儿均存在明显的认知障碍和语言发育落后。结论 Angelman综合征婴儿期的临床表现不典型,发育迟缓最为常见,部分具有特殊面容;VEEG具有明显特征性,可为早期诊断提供线索;可疑病例应进行遗传学检查以确诊。Objective To explore the clinical and video-electroencephalogram （VEEG） characteristics of Angelman syndrome （AS） diagnosed in infancy and to provide clues for early diagnosis. Methods From September 2010 to September 2015, ten patients with AS were diagnosed and treated in department of neurology and development of Affiliated Bayi Children＇s Hospital, PLA Army General Hospital. The age ranged from 6 months to 12 months. The clinical manifestations, VEEG data, genetic examination results, therapy and outcomes of the patients were retrospectively an＇alyzed. Gesell development scale was used to evaluate the developmental quotient. Results The main symptom was developmental delay in all the patients. Six cases were misdiagnosed as cerebral palsy in other hospitals. Epileptic seizures occurred in five cases, and two patients displayed status epilepticus. Five patients had frequent laughter. Two patients showed sleep disorder. Seven cases showed microcephaly. Five cases had flat occiput. Four had hypopigmented skin light hair. Three cases had wide mouth and undershot jaw. Seven cases showed moderate to severe developmental delay. All the ten cases showed moderate to severedevelopmental delay of speech ability. The VEEG of all patients showed general high-amplitude slow waves during awake and sleep times paroxysmal or continuously. The slow waves might migrate between different sites. Spike or sharp waves might be mixed within this pattern. Genetic examinations showed abnormal in the 15ql 1-13 region of chromosome in all patients. Followed up for six months to five years, among the four patients without epilepsy in the first year, three cases presented epileptic seizures. All of the survivors had obvious cognitive disorder and language backward. Conclusions The clinical symptoms of AS in infancy are usually atypical. The main characteristic is developmental delay, and some patients have special faces. VEEG is a very sensitive and specific method to make early clinical diagnosis for AS. Genetic examinations

关 键 词：ANGELMAN综合征 发育迟缓 癫痫 脑电图 

分 类 号：R742.1[医药卫生—神经病学与精神病学]