北京大学学报（医学版）2015，Vol.47Issue(6)：1034-1036,3.DOI:10.3969/j.issn.1671-167X.2015.06.027
肌阵挛癫痫伴破碎样红纤维综合征1例并文献复习
Myoclonus epilepsy with ragged-red fibers:a case report and literature review
赵曼曼 1张尧 2包新华1
作者信息
- 1. 北京大学第一医院儿科,北京 100034
- 2. 首都医科大学附属北京潞河医院儿科,北京 101149
- 折叠
摘要
Abstract
SUMMARY To demonstrate the clinical manifestation, diagnosis and treatment of myoclonus epilepsy with ragged-red-fibers ( MERRF) , a case of MERRF was presented with review of the literature. A 4-year-7-month-old girl was diagnosed with MERRF. She had tremor, fatigue and developmental delay for more than 2 years. Laboratory tests showed that the serum and urine lactic acid and pyruvic acid increased significantly. Electroencephalogram showed diffuse and focal spike slow wave and slow wave in right central and parietal regions. Electromyogram showed neurological damage. Gene mutational analysis showed mtDNA 8344 A>G mutation. The mutational rate was 78%. Mitochondrial disease MERRF syndrome was diagnosed. Cocktails therapy with vitamins B1, B6, B12, L-carnitine, and coenzyme Q10 was administra-ted to the patient. MERRF is a rare disease. The diagnosis can be made by gene mutational analysis. Cocktail therapy may slow down the deterioration of the disease. Gene therapy is still experimental.关键词
MERRF综合征/基因分型技术/病例报告Key words
MERRF syndrome/Genotyping techniques/Case reports分类
医药卫生引用本文复制引用
赵曼曼,张尧,包新华..肌阵挛癫痫伴破碎样红纤维综合征1例并文献复习[J].北京大学学报（医学版）,2015,47(6):1034-1036,3.
