PDF(Pubmed)
Abstract：
Mitochondria are essential for human metabolic function. Over 350 genetic mutations are associated with mitochondrial diseases, which are inherited in a matrilineal fashion. In mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), defective mitochondrial function and resultant impaired cellular energy production compromise vascular perfusion in affected tissues. Early diagnostic criteria suggested the diagnosis should be considered in those under 40. However, a broader range of phenotypes are now recognised, including those that present for the first time later in life. The primary presenting feature in MELAS is a stroke-like episode invariably resulting in patients undergoing neuroradiological imaging. We present a case of a woman with a first presentation of a stroke-like episode and seizures in her 40s who was eventually diagnosed with MELAS. We detail her clinical presentation, treatment and diagnosis, emphasising the role of serial imaging in her diagnosis.
摘要：
线粒体对人体代谢功能至关重要。超过350个基因突变与线粒体疾病相关,以母系方式继承。在线粒体脑肌病中，乳酸性酸中毒和中风样发作（MELAS），线粒体功能缺陷和由此导致的细胞能量产生受损会损害受影响组织的血管灌注。早期诊断标准建议40岁以下的患者应考虑诊断。然而,现在已经认识到更广泛的表型，包括那些在以后的生活中第一次出现的人。MELAS的主要表现特征是中风样发作，总是导致患者接受神经放射学成像。我们介绍了一例女性，该女性在40多岁时首次出现中风样发作和癫痫发作，最终被诊断为MELAS。我们详细介绍了她的临床表现，治疗和诊断，强调串行成像在她的诊断中的作用。
