4例全面发育迟缓伴特征性脑电图异常患儿的临床分析

Clinical analysis of 4 cases of children with global developmental delay and characteristic electroencephalogram pattern

目的 分析全面发育迟缓伴特征性脑电图异常患儿的临床特点和病因.方法 对2018年1月~2019年9月在南方医科大学附属佛山妇幼保健院儿童康复科就诊并经视频脑电图检查发现特征性脑电图异常的4例发育迟缓/智力障碍患儿的临床特点进行回顾性分析,总结分析Gesell发育诊断量表、遗传学检查等辅助检查结果.结果 患儿首诊年龄为6~21个月,出生史、家族史均无明确异常.所有患儿均以“发育落后”为首诊原因,Gesell发育诊断量表评估可见各个能区均存在不同程度的发育迟缓.3例皮肤色素减退,2例存在经常发笑、活动过度,均未见癫痫或热性惊厥.所有患儿脑电图均存在特征性表现,其中3例主要表现为前头部为著的节律性高-极高波幅δ波阵发或连续发放,伴后头部节律性棘慢波发放;1例主要表现为广泛性高波幅4~6 Hz θ活动.甲基化特异性多重连接依赖探针扩增检测结果发现3例为15q11-13母源片段缺失,1例存在15q11-13父源单亲二倍体,最后诊断为Angelman综合征.结论 Angelman综合征患儿早期临床表现缺乏特异性或容易被忽略,对于不明原因的发育迟缓/智力障碍患儿,即使没有抽搐表现,仍建议常规进行脑电图检查.Angelman综合征患儿脑电图有一定的特征性,可为早期诊断提供线索,指导进一步遗传学检查以明确诊断.

Objective To analyze the clinical characteristics and etiology of children with comprehensive developmental delay and characteristic EEG abnormalities.Methods From January 2018 to September 2019,4 cases of children with developmental retardation/mental disability were diagnosed by video EEG examination in the Department of Pediatric Rehabilitation,Foshan Maternal and Child Health Hospital Affiliated to Southern Medical University.The characteristics were retrospectively analyzed,and the results of auxiliary examinations such as Gesell Development Diagnostic Scale and genetic examination were summarized and analyzed.Results The children′s age at the first diagnosis was 6-21 months,and there were no definite abnormalities in the birth history and family history.All children were diagnosed with"developmental backwardness"as the first reason.Gesell′s Developmental Diagnostic Scale showed that there were various degrees of developmental delay in each energy zone.Three children had hypopigmentation of the skin,and 2 cases had frequent laughter and hyperactivity,and neither had epilepsy or febrile seizures.All children′s electroencephalograms had characteristic manifestations.Among them,3 cases mainly showed that the front head was markedly rhythmic high-very high amplitude delta wave burst or continuous distribution,with posterior head rhythmic spike slow wave distribution.One case mainly exhibited extensive high-amplitude 4-6 Hzθactivity.Methylation-specific multiple ligation-dependent probe amplification detection results showed that 3 children had 15q11-13 maternal fragments missing,1 patient had 15q11-13 paternal diploid,and finally diagnosed Angelman syndrome.Conclusion The early clinical manifestations of children with Angel man syndrome lack specificity or are easily overlooked.For children with unexplained stunting/mental disability,even if there is no convulsions,routine EEG examination is recommended.The EEG of children with Angelman syndrome has certain characteristics,which can provide clues for early diagnosis and guide further genetic examination to confirm the diagnosis.