Myoclonus epilepsy with ragged-red fibers:a case report and literature review
10.3969/j.issn.1671-167X.2015.06.027
- VernacularTitle:肌阵挛癫痫伴破碎样红纤维综合征1例并文献复习
- Author:
Manman ZHAO
;
Yao ZHANG
;
Xinhua BAO
- Publication Type:Journal Article
- Keywords:
MERRF syndrome;
Genotyping techniques;
Case reports
- From:
Journal of Peking University(Health Sciences)
2015;47(6):1034-1036
- CountryChina
- Language:Chinese
-
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.
