Yang Xin-ying, Zou Li-ping, Song Fang, Zhang Li-ping, Zheng Hua, Wu Hu-sheng, Xiao Jing
Department of Neurology and Rehabilitation, Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.
Zhonghua Er Ke Za Zhi. 2010 Oct;48(10):783-6.
To investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease.
Fourteen children with Angelman syndrome received video EEG monitoring, head MRI/CT and gene test, 11 patients received the metabolic investigations (e.g., lactic acid, ammonia, GC/MS and MS/MS). Eight patients received Gesell test. The patients were followed up for 1-3 years.
Of the 14 cases, 4 were male and 10 female, their age was from 8 months to 3 years and 7 months. The clinical characteristics included prominent lower jaw and wide mouth, fair skin and yellow hair, light-colored iris, paroxysmal laughter, astasia and language backward. Twelve patients had epileptic seizures; 10 patients displayed non-convulsive status epilepticus (NCSE), 9 patients displayed myoclonic, atypical absence, and non-convulsive seizure simultaneously; myoclonic, generalized tonic-clonic seizure and complex partial seizure in 1 each; 4 patients had fever in early seizures. The EEG showed paroxysmal middle-high amplitude 2-3 Hz spike and spinous slow-wave in 8 patients. Four patients showed paroxysmal frequently middle-high amplitude 2-3 Hz slow waves mixed with sharps. The other 2 patients showed a normal EEG. All the patients were diagnosed with genetics testing. The results included maternal deletion of chromosome 15q11-13 in 12, paternal uniparental disomy in 1 and imprinting defects in 1.
There are characteristic clinical manifestation and craniofacial features in Angelman syndrome patients. Some patients have specific EEG patterns. Abnormal region of chromosome 15q11-13 is the basis of diagnosis.
探讨儿童安吉尔曼综合征的临床表现及脑电图特征，以加强对该疾病的认识。
14例安吉尔曼综合征患儿接受了视频脑电图监测、头部MRI/CT及基因检测，11例患者接受了代谢检查（如乳酸、氨、气相色谱-质谱联用仪和串联质谱仪检测）。8例患者接受了盖塞尔发育量表测试。对患者进行了1至3年的随访。
14例患者中，男性4例，女性10例，年龄为8个月至3岁7个月。临床特征包括下颌突出、嘴巴宽大、皮肤白皙、头发发黄、虹膜浅色、阵发性大笑、站立不能及语言发育迟缓。12例患者有癫痫发作；10例表现为非惊厥性癫痫持续状态（NCSE），9例同时表现为肌阵挛、不典型失神及非惊厥性发作；各有1例表现为肌阵挛、全身强直阵挛发作及复杂部分性发作；4例患者在癫痫发作初期有发热。脑电图显示，8例患者有阵发性中高波幅2-3Hz棘慢波。4例患者表现为阵发性频繁中高波幅2-3Hz慢波夹杂尖波。另外2例患者脑电图正常。所有患者均通过基因检测确诊。结果显示，12例为母源15号染色体q11-13缺失，1例为父源单亲二倍体，1例为印记缺陷。
安吉尔曼综合征患者有特征性的临床表现及颅面部特征。部分患者有特定的脑电图模式。15号染色体q11-13异常区域是诊断的基础。
