Reichmann H, Scheel H, Bier B, Ketelsen U P, Zabransky S
Department of Neurology, University of Würzburg, Germany.
Ann Neurol. 1992 Jan;31(1):107-9. doi: 10.1002/ana.410310120.
A female infant was seen at the age of 2 months because of hypotonia, delayed motor development, and lactic acidosis, and she died at age 13 months due to respiratory failure. In a muscle specimen taken at 11 months and in a liver specimen obtained 1.5 hours postmortem, we found decreased activities of cytochrome c oxidase and long-chain acyl coenzyme A dehydrogenase. Neuropathological changes were typical for Leigh's subacute necrotizing encephalomyelopathy. To our knowledge, this is the first report of a combined defect of complex IV of the respiratory chain and of the long-chain specific acyl coenzyme A dehydrogenase of beta-oxidation in muscle and liver.
一名女婴在2个月大时因肌张力减退、运动发育迟缓及乳酸酸中毒前来就诊，13个月大时因呼吸衰竭死亡。在其11个月大时采集的肌肉标本以及死后1.5小时获取的肝脏标本中，我们发现细胞色素c氧化酶和长链酰基辅酶A脱氢酶的活性降低。神经病理学改变符合Leigh亚急性坏死性脑脊髓病的特征。据我们所知，这是关于呼吸链复合体IV以及肌肉和肝脏中β氧化的长链特异性酰基辅酶A脱氢酶联合缺陷的首例报告。
