Analysis on clinical phenotype and gene mutation of progressive myoclonic epilepsy: one case report

• Published in: Zhongguo xian dai shen jing ji bing za zhi Vol. 18; no. 4; pp. 272 - 277
• Main Authors: Xing-wang SONG, Yu-qing GUAN, Qian-yi WU, Yong-hong YI
• Format: Journal Article
• Language: English
• Published: Tianjin Huanhu Hospital 01.04.2018
• Subjects: Genes; Mutation; Myoclonic epilepsies, progressive
• DOI: 10.3969/j.issn.1672-6731.2018.04.008
• ISSN: 1672-6731

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. DOI: 10.3969/j.issn.1672-6731.2018.04.008