Song Donglin, Liu Cuilan, Lu Qiang, Shi Jin, Chen Jinwen, Zhang Hong, Zhang Yingqian, Wang Heng, Zhang Weiqing, Li Gong
Department of Neurology, General Hospital of Air Force, Beijing 100036, China.
Zhonghua Yi Xue Za Zhi. 2002 Feb 10;82(3):158-60.
To investigate the symptomatic, biochemical, and pathological characteristics of mitochondrial myopathy and mitochondrial encephalomyopathy.
Physical examination, electromyography, electroencephalography, cranial CT or MRI, serum enzymological examination, and light microscopy and electron microscopy of muscle biopsy specimens were made among twenty-one in-patients with the diagnosis of mitochondrial myopathy and mitochondrial encephalopathy. All the patients were followed up for more than 5 years.
Four patients died of lung infection, epilepticism or multiple organ failure 3, 4, 6, and 8 years after the onset of disease. One patient had already survived for 12 years. Among the 6 patients with the original diagnosis of mitochondrial myopathy, the diagnosis of two was changed as myoclonus epilepsy with ragged fiber (MERRF) 5 and 6 years after the onset. Among the seven patients whose disease was originally diagnosed as chronic progressive external ophthalmoplegia the diagnosis was changed as mitochondrial encephalomyopathy with lactic acidemia and stroke like episodes seven years after the onset.
It is not difficult to diagnose mitochondrial myopathy and mitochondrial encephalomyopathy based on the symptomatical, biochemical, and pathological characteristics. However, the clinical manifestations of these diseases may change during the progress of the disease. Follow-up is highly recommended.
探讨线粒体肌病和线粒体脑肌病的症状、生化及病理特征。
对21例诊断为线粒体肌病和线粒体脑病的住院患者进行体格检查、肌电图、脑电图、头颅CT或MRI、血清酶学检查以及肌肉活检标本的光镜和电镜检查。所有患者均随访5年以上。
4例患者分别于发病后3年、4年、6年和8年死于肺部感染、癫痫发作或多器官功能衰竭。1例患者已存活12年。最初诊断为线粒体肌病的6例患者中，2例在发病5年和6年后诊断变更为肌阵挛性癫痫伴破碎红纤维（MERRF）。最初诊断为慢性进行性眼外肌麻痹的7例患者中，7年后诊断变更为线粒体脑肌病伴乳酸性酸中毒和卒中样发作。
根据症状、生化及病理特征诊断线粒体肌病和线粒体脑病并不困难。然而，这些疾病的临床表现可能在疾病进展过程中发生变化。强烈建议进行随访。
