Abstract:

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.

Key words: Myoclonic epilepsies, progressive, Genes, Mutation

摘要：

目的 探讨进行性肌阵挛性癫痫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痫发作、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痫伴破碎红纤维。结论 进行性肌阵挛性癫痫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。肌阵挛性癫痫伴破碎红纤维具有高度临床异质性。

关键词: 肌阵挛性癫痫, 进行性, 基因, 突变