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
杜语慧 1贾鑫磊 2梅道启 3张群群 1苏军 1崔利丹 1吕艳琦1
作者信息
- 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
- 折叠
摘要
DNM7L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.
Abstract
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
DNW1L基因/线粒体和过氧化物酶体裂变缺陷/脑病/癫痫持续状态Key words
DNM1L gene/Mitochondrial peroxidase division deficiency/Encephalopathy/Status epilepticus引用本文复制引用
基金项目
河南省科技攻关计划(LHGJ20190957)
出版年
2024
NETL
NSTL
万方数据