A case of mitochondrial and peroxisome fission deficiency-related encephalopathy caused by DNM1L gene mutation
10.3760/cma.j.cn113694-20231011-00227
- VernacularTitle: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
- Author:
Yuhui DU
1
;
Xinlei JIA
;
Daoqi MEI
;
Qunqun ZHANG
;
Jun SU
;
Lidan CUI
;
Yanqi LYU
Author Information
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
- Keywords:
DNM1L gene;
Mitochondrial peroxidase division deficiency;
Encephalopathy;
Status epilepticus
- From:
Chinese Journal of Neurology
2024;57(1):74-79
- CountryChina
- Language:Chinese
-
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.
