以“癫痫发作”起病的MELAS综合征临床特点分析

Clinical Characteristics of MELAS Syndrome with the Onset of Epilepsy

线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)综合征是一种异质性很强的遗传代谢性疾病,其临床表现复杂,"癫痫发作"是其常见的首发症状之一,发病早期常被误诊。本文介绍了7例以"癫痫发作"起病的MELAS综合征患者的临床资料并进行回顾性分析,发现肌肉活检可见破碎红纤维,均可检测到线粒体DNA(mt DNA)A3243G突变,以期为以"癫痫发作"起病的MELAS综合征患者的早期诊断提供借鉴。

Mitochondrial encephalomyopathy,lactic acidosis,and stroke-like episodes（MELAS）syndrome is a kind of inherited metabolic diseases with strong heterogeneity. Early-onset MELAS syndrome is often misdiagnosed due to the complicated clinical manifestations and epileptic seizure as one of the common initial symptoms. In order to provide a reference for the diagnosis of the disease in the early stage,we retrospectively analyzed the clinical data of seven MELAS syndrome patients with the onset of epilepsy,whose muscle-biopsy specimens were found with ragged red fibers and genes were detected with the mtDNA A3243G site mutation.