Pavlakis S G, Phillips P C, DiMauro S, De Vivo D C, Rowland L P
Ann Neurol. 1984 Oct;16(4):481-8. doi: 10.1002/ana.410160409.
We report on two patients who have a mitochondrial myopathy, encephalopathy, lactic acidosis, and recurrent cerebral insults that resemble strokes (MELAS). These two and nine other reported patients share the following features: ragged red fibers evident on muscle biopsy, normal early development, short stature, seizures, and hemiparesis, hemianopia, or cortical blindness. Lactic acidemia is a common finding. We believe that MELAS represents a distinctive syndrome and that it can be differentiated from two other clinical disorders that also are associated with mitochondrial myopathy and cerebral disease: Kearns-Sayre syndrome and the myoclonus epilepsy ragged red fiber syndrome. Existing information suggests that MELAS is transmitted by maternal inheritance. The ragged red fibers suggest an abnormality of the electron transport system, but the precise biochemical disorders in these three clinical syndromes remain to be elucidated.
我们报告了两名患有线粒体肌病、脑病、乳酸性酸中毒以及类似中风的复发性脑部损伤（MELAS）的患者。这两名患者以及其他九名已报告的患者具有以下共同特征：肌肉活检可见破碎红纤维，早期发育正常，身材矮小，癫痫发作，以及偏瘫、偏盲或皮质盲。血乳酸过多是常见表现。我们认为MELAS代表一种独特的综合征，并且它可以与另外两种同样与线粒体肌病和脑部疾病相关的临床病症相鉴别：卡恩斯－塞尔综合征以及肌阵挛性癫痫破碎红纤维综合征。现有信息表明MELAS通过母系遗传传递。破碎红纤维提示电子传递系统存在异常，但这三种临床综合征的确切生化紊乱仍有待阐明。
