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

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.