Five reported cases of Angelman syndrome diagnosed in infancy and literature review

MA Xiu-wei; WEN Xiu-fang; LIU Jing-jing; ZHU Li-na; FENG Zhi-chun

doi:10.11852/zgetbjzz2015-23-04-35

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Chinese Journal of Child Health Care ›› 2015, Vol. 23 ›› Issue (4) : 446-448. DOI: 10.11852/zgetbjzz2015-23-04-35

Five reported cases of Angelman syndrome diagnosed in infancy and literature review

MA Xiu-wei,WEN Xiu-fang,LIU Jing-jing,ZHU Li-na,FENG Zhi-chun

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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.

Key words

Angelman syndrome / motor and mental retardation / electroencephalogram

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MA Xiu-wei,WEN Xiu-fang,LIU Jing-jing,ZHU Li-na,FENG Zhi-chun. Five reported cases of Angelman syndrome diagnosed in infancy and literature review[J]. Chinese Journal of Child Health Care. 2015, 23(4): 446-448 https://doi.org/10.11852/zgetbjzz2015-23-04-35

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