DiMauro S, Nicholson J F, Hays A P, Eastwood A B, Papadimitriou A, Koenigsberger R, DeVivo D C
Ann Neurol. 1983 Aug;14(2):226-34. doi: 10.1002/ana.410140209.
A 2-week-old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1/2 months, rolled over at 7 months, and walked by 16 months. At 33 months of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.
一名2周大的男婴出现严重的全身无力、肌张力减退、反射减弱、巨舌症和严重的乳酸酸中毒。该婴儿自发好转：4个半月时能抬头，7个月时会翻身，16个月时会走路。33个月大时，他有轻度近端肌无力。巨舌症在4个月大时消失。血乳酸稳步下降，14个月大时恢复正常。对1个月和7个月大时获取的肌肉活检标本进行的组织化学和超微结构研究显示线粒体、脂质和糖原过多；36个月大时的第三次活检仅显示散在纤维萎缩。第一次活检中细胞色素c氧化酶染色在不到5%的纤维中呈阳性，第二次活检中约60%的纤维呈阳性，第三次活检中所有纤维均呈阳性。生化分析显示细胞色素c氧化酶活性存在孤立缺陷，第一次活检时仅为最低对照水平的8%；第二次活检时活性增至47%，第三次活检时高于正常水平。与致命婴儿型细胞色素c氧化酶缺乏症不同，这种情况下的酶缺陷是可逆的。这种差异的生化基础尚待解释。
