摘要
患儿为7月龄男童,以智力及运动发育迟缓、癫痫为主要表现,头颅磁共振成像可见弥漫性多小脑回畸形、脑白质异常信号、小脑及脑干发育不良,脑电背景活动可见不符合年龄的广泛性高幅节律性活动伴痫样放电、睡眠期可见极度纺锤。全外显子组测序检出ADGRG1基因母源性c.215del(p.P72Lfs^(*)41)及父源性c.1906C>T(p.Q636^(*))复合杂合变异,既往未见报道,诊断为ADGRG1基因变异相关多小脑回畸形。
作者
刘晓睿
蒋铁甲
杨兴惠
吴鼎文
童凡
高峰
Liu Xiaorui;Jiang Tiejia;Yang Xinghui;Wu Dingwen;Tong Fan;Gao Feng(Department of Neurology,Children′s Hospital,Epilepsy Center,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Radiology,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China;Department of Genetics and Metabolism,Children's Hospital,Zhejiang University School of Medicine,National Clinical Research Center for Child Health,Hangzhou 310052,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2024年第11期1110-1112,共3页
Chinese Journal of Pediatrics
