Harpey J P, Heron D, Prudent M, Charpentier C, Rustin P, Ponsot G, Cormier-Daire V
Clinique de Pédiatrie-Génétique Médicale, Hôpital de la Salpêtrière, Paris, France.
J Inherit Metab Dis. 1998 Oct;21(7):748-52. doi: 10.1023/a:1005497116398.
A 25-month-old boy, born to consanguineous parents, had progressive spastic tetraplegia, and increased signal of the white matter on cerebral T2-weighted magnetic resonance imaging indicative of diffuse leukodystrophy. Elevated blood and cerebrospinal fluid lactate levels pointed to a respiratory chain defect. Cytochrome-c oxidase deficiency was demonstrated in cultured skin fibroblasts and skeletal muscle. This report extends the phenotype of COX deficiency in infancy. Systematic study of blood and CSF lactate should be carried out in every infant with leukodystrophy.
一名25个月大的男孩，其父母为近亲结婚，患有进行性痉挛性四肢瘫痪，脑部T2加权磁共振成像显示白质信号增强，提示弥漫性脑白质营养不良。血液和脑脊液乳酸水平升高表明存在呼吸链缺陷。在培养的皮肤成纤维细胞和骨骼肌中证实存在细胞色素c氧化酶缺乏。本报告扩展了婴儿期COX缺乏的表型。对于每例脑白质营养不良的婴儿，都应进行血液和脑脊液乳酸的系统研究。
