Miyabayashi S, Narisawa K, Iinuma K, Tada K, Sakai K, Kobayashi K, Kobayashi Y, Morinaga S
Brain Dev. 1984;6(4):362-72. doi: 10.1016/s0387-7604(84)80112-6.
Two siblings with cytochrome c oxidase deficiency are described. One of them died of subacute necrotizing encephalomyelopathy which was proven by autopsy. The other was also suspected of having Leigh encephalomyelopathy by the findings on brain CT scans. The former, a younger brother, was in good health until the age of 10 months when progressive dysphagia, muscular hypotonia and abnormal eye movements became apparent. Six months later he suddenly died due to respiratory insufficiency. The latter, an elder brother, started to show nystagmus, abnormal eye movements and ataxia at the age of 5 years. A deficiency of cytochrome c oxidase in the younger brother was demonstrated in autopsied liver and brain, while such a deficiency in the elder brother was shown in biopsied peripheral muscle tissue and in cultured skin fibroblasts. Both patients showed a marked heat lability of cytochrome c oxidase. These results suggest that the biochemical defect observed in the siblings is due to a genetic defect. This seems to be the first case of a generalized defect in cytochrome c oxidase.
本文描述了两名患有细胞色素c氧化酶缺乏症的兄弟姐妹。其中一人死于亚急性坏死性脑脊髓病，尸检证实了这一诊断。另一人根据脑部CT扫描结果也被怀疑患有 Leigh 脑脊髓病。前者是弟弟，10个月大之前身体健康，之后逐渐出现进行性吞咽困难、肌张力减退和异常眼动。6个月后，他因呼吸功能不全突然死亡。后者是哥哥，5岁时开始出现眼球震颤、异常眼动和共济失调。尸检发现弟弟的肝脏和大脑中细胞色素c氧化酶缺乏，而哥哥的活检外周肌肉组织和培养的皮肤成纤维细胞中也显示出这种缺乏。两名患者的细胞色素c氧化酶均表现出明显的热不稳定性。这些结果表明，在这两名兄弟姐妹中观察到的生化缺陷是由基因缺陷引起的。这似乎是细胞色素c氧化酶全身性缺陷的首例病例。
