1例线粒体基因A3243G突变的线粒体脑肌病伴高乳酸血症和卒中样发作、Leigh叠加综合征患者的诊疗分析

Analysis on Diagnosis and Treatment of Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes/Leigh Superposition Syndrome with Mitochondrial Gene A3243g Mutation in 1 Case

线粒体脑肌病是较为少见的线粒体结构和(或)功能异常所导致的以脑和肌肉受累为主的多系统疾病,病因为遗传基因的缺陷。目前,临床针对线粒体脑肌病尚无根治方法,主要通过对症治疗纠正患者缺陷,缓解患者临床症状。该文分析1例线粒体基因A3243G突变的线粒体脑肌病伴高乳酸血症和卒中样发作、Leigh叠加综合征患者的诊疗,为临床提供参考。

Mitochondrial encephalomyopathy is a rare multisystem disease with brain and muscle involvement caused by rare mitochondrial structure and/or function abnormality,and the cause is genetic gene defects.At present,there is no radical treatment for mitochondrial encephalomyopathy in clinical setting,symptomatic treatment is mainly used to correct the defects of patients and alleviate the clinical symptoms of patients.This paper analyzes the diagnosis and treatment of 1 patient with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes/Leigh superposition syndrome with mitochondrial gene A3243G mutation,and provides a reference for clinical practice.