Windpessl Martin, Müller Petra, Wallner Manfred
Fourth Department of Medicine , Klinikum Wels-Grieskirchen , Wels , Austria.
Department of Neurology , Landesnervenklinik Linz , Linz , Austria.
Oxf Med Case Reports. 2014 May 8;2014(2):24-5. doi: 10.1093/omcr/omu010. eCollection 2014 May.
The acronym MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) belies the true scope of one of the most prevalent mitochondriopathies in adults. While the original description focused on neuromuscular symptoms, we now recognize this syndrome as genetically well defined but phenotypically profoundly heterogeneous, as exemplified by our experience. Here we report the case of a man who initially presented in 1986. In hindsight, his was a classic manifestation of MELAS, but the illness was ascribed to an ill-defined viral encephalitis. Over the years, diabetes and hearing impairment developed and his functional status deteriorated progressively. It took the quarter of a century to arrive at the correct diagnosis. It is worthwhile to keep an open mind when dealing with chronically ill patients with a seemingly clear-cut diagnosis.
首字母缩略词MELAS（线粒体脑肌病伴乳酸酸中毒和卒中样发作）掩盖了成人中最常见的线粒体疾病之一的真实范围。虽然最初的描述集中在神经肌肉症状上，但我们现在认识到这种综合征在基因上定义明确，但在表型上具有高度异质性，我们的经验就是例证。在此，我们报告一例于1986年初次就诊的男性病例。事后看来，他的症状是MELAS的典型表现，但当时该疾病被归因于一种病因不明的病毒性脑炎。多年来，他出现了糖尿病和听力障碍，功能状态逐渐恶化。经过四分之一个世纪才得出正确诊断。在处理诊断看似明确的慢性病患者时，保持开放的思维是值得的。
