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

作　　者：陈曦 徐佳露[1] 沈晓燕 阮雯聪[1] 李海峰[1] CHEN Xi;XU Jia-lu;SHEN Xiao-yan(Department of Pediatric Rehabilitation,Children's Hospital,Zhejiang University School of Medicine,Hangzhou 310003,China)

机构地区：[1]浙江大学医学院附属儿童医院康复科,国家儿童健康与疾病临床医学研究中心,国家儿童区域医疗中心,浙江杭州310003

出　　处：《中国实用儿科杂志》2024年第8期636-639,共4页Chinese Journal of Practical Pediatrics

基　　金：浙江省“尖兵”“领雁”研发攻关计划(2023C03003);国家青年科学基金项目(62306270);浙江省基础公益研究计划(LBY21H170002);浙江省卫生健康科技计划(2021PY051)。

摘　　要：回顾性分析2023年9月浙江大学医学院附属儿童医院康复科收治的1例9q21.13微缺失综合征伴眼睑肌阵挛癫痫患儿的临床资料,并检索相关文献资料复习。患儿,男,2岁,因发现发育落后近20个月,间断抽搐3月余入院,经对症治疗后效果不佳,突出症状为双侧眼睑局部的节律性肌阵挛抽搐,常伴有眼球上视及头后仰,存在合眼敏感和光敏感,并有特征性的脑电图改变。该病初期临床症状往往不显著,临床上易被漏诊或误诊为面肌肉痉挛或抽动障碍,借助视频脑电图有助于早期诊断及治疗。早诊断、早治疗,患儿对药物反应较好,认知功能不会明显受损。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 

分 类 号：R72[医药卫生—儿科]