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

肌阵挛癫痫伴破碎样红纤维（myoclonus epilepsy with ragged-red fibers,MERRF）综合征是线粒体病中较少见的一种类型,国内外报道较少,典型的临床表现为肌阵挛癫痫、共济失调、肌病伴破碎样红纤维病理改变,分子遗传学检查是诊断该病的可靠手段。MERRF综合征尚无根治方法,目前广泛采用的鸡尾酒疗法对本病的发展有可能起到延缓的作用,

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 mt DNA 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 administrated 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.