CAJ | 학술논문

目的探讨儿童Angelman综合征(AS)的临床和脑电图特征,加强对本病的认识.方法 14例患儿均接受录像脑电图、头颅MRI/CT及基因学检查;11例进行了遗传代谢病相关检查(血乳酸、血氨、尿氨基酸和有机酸筛杳等);8例接受智力测查.随访时间1～3年.结果本组就诊时年龄8个月～3岁7个月,其中男4例,女10例,他们的临床特征表现为下颌突出、嘴阔大、肤色白、毛发黄、虹膜色淡,阵发性发笑,站立不能或走路不稳,语言落后.本组中被诊断癫癎12例,其中10例出现非惊厥样癫癎持续状态;同时有肌阵挛发作、不典型失神发作、非惊厥样癫癎持续状态9例;单纯肌阵挛发作、强直阵挛发作和复杂部分性发作各1例;病初发热惊厥4例.8例患儿脑电图提示清醒及睡眠期阵发中高波幅(2.5～3 Hz)棘波、棘慢波;4例双导频繁阵发中高波幅2～3 Hz慢波,夹杂少量尖波;2例脑电图正常.全部病例均被遗传学检查确诊,其中母源性染色体15q11-13缺失12例,父源性单亲二倍体1例,印迹缺损1例.结论 AS患儿具有较为突出的临床特点及特殊面容,多数患儿具有特征性的脑电图表现.15q11-13区域存在异常是确诊的依据.
목적 탐토인동Angelman종합정(AS)적림상화뇌전도특정,가강대본병적인식.방법 14례환인균접수록상뇌전도、두로MRI/CT급기인학검사;11례진행료유전대사병상관검사(혈유산、혈안、뇨안기산화유궤산사묘등);8례접수지력측사.수방시간1～3년.결과 본조취진시년령8개월～3세7개월,기중남4례,녀10례,타문적림상특정표현위하합돌출、취활대、부색백、모발황、홍막색담,진발성발소,참립불능혹주로불은,어언락후.본조중피진단전간12례,기중10례출현비량궐양전간지속상태;동시유기진련발작、불전형실신발작、비량궐양전간지속상태9례;단순기진련발작、강직진련발작화복잡부분성발작각1례;병초발열량궐4례.8례환인뇌전도제시청성급수면기진발중고파폭(2.5～3 Hz)극파、극만파;4례쌍도빈번진발중고파폭2～3 Hz만파,협잡소량첨파;2례뇌전도정상.전부병례균피유전학검사학진,기중모원성염색체15q11-13결실12례,부원성단친이배체1례,인적결손1례.결론 AS환인구유교위돌출적림상특점급특수면용,다수환인구유특정성적뇌전도표현.15q11-13구역존재이상시학진적의거.
Objective To investigate the clinical manifestations and EEG characteristics of Angelman syndrome in children, and to strengthen the recognition of this disease. Method 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, amonia, GC/MS and MS/MS ). Eight patients received Gesell test. The patients were followed up for 1-3 years. Result 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-convulsivestatus 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 frenquently 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. Conclusion 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.