进行性肌阵挛性癫(癎)一例临床表型及基因突变分析

摘要

目的 探讨进行性肌阵挛性癫(癎)的临床表型和基因突变特点.方法与结果 男性患者,43岁,临床主要表现为光敏感性癫(癎)发作、进行性加重的小脑共济失调和周围神经病;骨骼肌组织活检可见典型破碎红纤维;超微结构观察可见肌膜下堆积的线粒体,部分线粒体嵴呈管状或同心圆状;外周血线粒体基因组检测显示线粒体DNA c.8344A＞G杂合突变;最终明确诊断为肌阵挛性癫(癎)伴破碎红纤维.结论 进行性肌阵挛性癫(癎)是一组具有相似临床表现但又各具特征的疾病,根据临床表现、病理学和基因突变特点有助于明确病因.肌阵挛性癫(癎)伴破碎红纤维具有高度临床异质性.%Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME).Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures,progressive cerebellar ataxia and peripheral neuropathy.Skeletal muscle biopsy showed typical ragged-red fibers (RRF),large amount of mitochondria accumulating under the muscular membrane,and tubular or concentric mitochondrial cristae.A heterozygous c.8344A ＞ G mutation of mitochondrial DNA (mtDNA) was identified from peripheral whole blood cells.The final diagnosis was myoclonic epilepsy with ragged-red fibers (MERRF).Conclusions PMEs are a group of disorders with similar clinical presentations and individual characteristics.The diagnosis of PME should be considered by analyzing the clinical features,pathological results and gene detection.MERRF presents highly clinical heterogeneous features.