良性家族性新生儿惊厥一家系
CHINESE JOURNAL OF MEDICAL GENETICS(2002)
Abstract
先证者(Ⅳ3) 女,7个月.因反复惊厥7个月,加重4天入院.患儿系第1胎第1产,足月顺产.生后第3天出现惊厥,颅脑CT、血钙及血糖均正常,按缺氧缺血性脑病治疗2周无效.此后每1~2个月惊厥1次,表现为肌阵挛性发作,每次持续1~2 min.入院前4天惊厥频繁,每日4~5次.患儿体格、智力发育正常.查体无阳性体征.入院后颅脑CT及睡眠脑电图检查正常,血钙、血镁及血糖正常.予德巴金治疗,随访5个月未再出现惊厥.
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