中国实用儿科杂志2024，Vol.39Issue(8)：636-639,4.DOI:10.19538/j.ek2024080616
9q21.13微缺失综合征伴眼睑肌阵挛癫痫1例报道
Report on one case of 9q21.13 microdeletion syndrome with eyelid myoclonicepilepsy
摘要
Abstract
The clinical data of a case of 9q21.13 microdeletion syndrome with eyelid myoclonic epilepsy admitted to the Department of Pediatric Rehabilitation,Children's Hospital,in September 2023 were retrospectively analyzed,and relevant literature was searched for review.The child,male,2 years old,was admitted to the hospital because he was found to be developmentally backward for nearly 20 months,and had intermittent convulsions for more than 3 months.The patient responded poorly to symptomatic treatment.The prominent symptoms of eyelid myoclonic epilepsy are rhythmic myoclonic jerks localized to the eyelids bilaterally,often accompanied by upward gaze of the eyes and backward tilt of the head,the presence of synechiae sensitivity and photosensitivity,and characteristic electroencephalographic changes.The initial clinical symptoms of this disease are often not obvious,and it is easy to be missed or misdiagnosed as facial muscle spasm or tic disorders,which can be diagnosed and treated at an early stage with the help of video electroencephalography.If diagnosed early,children respond well to medication and their cognitive function is not significantly impaired.关键词
9q21.13微缺失综合征/全面性发育迟缓/眼睑肌阵挛癫痫Key words
9q21.13 microdeletion syndrome/global developmental delay/eyelid myoclonicepilepsy分类
医药卫生引用本文复制引用
陈曦,徐佳露,沈晓燕,阮雯聪,李海峰..9q21.13微缺失综合征伴眼睑肌阵挛癫痫1例报道[J].中国实用儿科杂志,2024,39(8):636-639,4.基金项目
浙江省"尖兵""领雁"研发攻关计划(2023C03003) （2023C03003）
国家青年科学基金项目(62306270) （62306270）
浙江省基础公益研究计划(LBY21H170002) （LBY21H170002）
浙江省卫生健康科技计划(2021PY051) （2021PY051）
