目的 分析于婴儿期诊断的Angelman综合征(Angelman syndrome,AS)的临床及脑电图(electroencephalogram,EEG)特征,为本病的早期诊断提供线索。方法 总结2012年7月-2014年7月于北京军区总医院附属八一儿童医院神经发育科就诊,经遗传学确诊的5例AS患儿的临床及视频脑电图(VEEG)特征,并进行文献复习。结果 5例中男4例,女1例,就诊年龄6~12个月。均因精神运动发育迟滞就诊,4例曾于外院诊断脑瘫。有2例表现爱笑,1例有睡眠障碍,无1例出现抽搐。4例有头围小,2例枕平,2例毛发黄、皮肤白,1例嘴大。Gesell发育测评显示中重度发育迟滞占70%,以语言发育迟滞突出。5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。结论 AS于婴儿期临床表现常不典型,精神运动发育迟滞为常见就诊原因,VEEG具有明显特征性和敏感性,可为早期诊断AS提供线索。
Abstract
Objective To analyze the clinical and electroencephalogram (EEG) characteristics of Angelman syndrome (AS) diagnosed in infancy and provide clues for early diagnosis. Methods The clinical and video-electroencephalogram (VEEG) data of 5 patients with AS confirmed by genetic diagnosis were analyzed and the literature review was carried on. Results Among the 5 patients aged 6~12 months,four were male and one was female.The main symptom was motor and mental retardation in all the patients.Four cases were misdiagnosed as cerebral palsy in other hospitals.Two patients had frequent laughter,and one showed abnormal sleep-wake cycles.No patient presented seizures.Four cases showed microcephaly,and 2 had flat occiput.Two had hypopigmented skin light hair and one had wide mouth.Gesell tests presented moderate to severe development delay (70%) and speech ability showed affected seriously.The VEEG of all the patients showed general high-amplitude slow waves during awake and sleep times paroxysmal or continuously.The slow waves might migrate between the different sites,spike or sharp waves might be mixed within this pattern. Conclusions The clinical symptoms of AS in infancy are usually atypical,and the main characteristic is development delay.VEEG is a very sensitive and specific method to make early diagnosis for AS.
关键词
Angelman综合征 /
精神运动发育迟滞 /
脑电图
Key words
Angelman syndrome /
motor and mental retardation /
electroencephalogram
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参考文献
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