DNM1L基因变异致线粒体和过氧化物酶体裂变缺陷相关脑病 1例  

A case of mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation

作　　者：杜语慧 贾鑫磊[2] 梅道启 张群群 苏军[1] 崔利丹 吕艳琦[1] Du Yuhui;Jia Xinlei;Mei Daoqi;Zhang Qunqun;Su Jun;Cui Lidan;Lyu Yanqi(Department of Pediatric Intensive Care Unit,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China;Department of Pediatric Intensive Care Unit,Beijing Children′s Hospital Affiliated to Capital Medical University,Beijing 100045,China;Department of Neurology,Children′s Hospital Affiliated to Zhengzhou University,Henan Children′s Hospital,Zhengzhou Children′s Hospital,Zhengzhou 450018,China)

机构地区：[1]郑州大学附属儿童医院(河南省儿童医院,郑州儿童医院)内科监护室,郑州450018 [2]首都医科大学附属北京儿童医院重症医学科,北京100045 [3]郑州大学附属儿童医院(河南省儿童医院,郑州儿童医院)神经内科,郑州450018

出　　处：《中华神经科杂志》2024年第1期74-79,共6页Chinese Journal of Neurology

基　　金：河南省科技攻关计划(LHGJ20190957)。

摘　　要：DNM1L基因变异所致线粒体和过氧化物酶体裂变缺陷相关脑病是一种罕见的、致死性的癫痫性脑病,具有临床表型和遗传异质性特点。急性期为药物难治性癫痫,预后差,可遗留严重神经系统后遗症。现报道1例经基因确诊的线粒体和过氧化物酶体裂变缺陷相关脑病患者,总结其临床资料及诊治过程,并进行文献复习,以提高对该疾病的认识。Mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation is a rare and fatal epileptic encephalopathy,with clinical phenotype and genetic heterogeneity.The acute stage is drug-resistant epilepsy with poor prognosis and serious neurological sequelae.A case of genetically confirmed encephalopathy related to mitochondrial and peroxisome fission defects is reported,the clinical data,treatment process are summarized,and the previous literature is reviewed to improve the understanding of the rare disease.

关 键 词：DNM1L基因 线粒体和过氧化物酶体裂变缺陷 脑病 癫痫持续状态 

分 类 号：R741[医药卫生—神经病学与精神病学]