Department of Internal Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Division of Rheumatology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
Int J Rheum Dis. 2019 Jun;22(6):1152-1156. doi: 10.1111/1756-185X.13575. Epub 2019 Apr 10.
Mitochondrial diseases are a group of disorders presenting mainly during infancy due to pathological dysfunction of the mitochondrial respiratory chain. We report a case of mitochondrial disease in an elderly woman complaining of generalized myalgia. A 69-year-old woman was admitted due to fatigue, general weakness, and a drowsy mental status. A brain magnetic resonance imaging (MRI) demonstrated multifocal lesions of increased T2 signal intensity, and laboratory findings were consistent with Fanconi syndrome. During her hospital course, she developed seizures, stress-induced cardiomyopathy, and respiratory failure. A muscle biopsy demonstrated ragged-red fibers in the muscle tissues seen in mitochondrial myopathy. We confirmed an 8 kb deletion in her mitochondrial DNA. Following treatment with l-carnitine, coenzyme Q10, and supportive measures, brain lesions on MRI scans disappeared, and the general symptoms gradually improved.
线粒体疾病是一组主要发生在婴儿期的疾病，由于线粒体呼吸链的病理性功能障碍引起。我们报告了一例老年女性因全身肌肉疼痛而出现的线粒体疾病。一位 69 岁的女性因疲劳、全身无力和嗜睡状态而入院。脑部磁共振成像（MRI）显示多处 T2 信号强度增加的病变，实验室检查结果符合范可尼综合征。在住院期间，她出现了癫痫发作、应激性心肌病和呼吸衰竭。肌肉活检显示肌肉组织中有破碎红纤维，提示线粒体肌病。我们在她的线粒体 DNA 中发现了 8kb 的缺失。在给予左卡尼汀、辅酶 Q10 和支持治疗后，MRI 扫描的脑部病变消失，全身症状逐渐改善。
