Zafeiriou D I, Koletzko B, Mueller-Felber W, Paetzke I, Kueffer G, Jensen M
Kinderpoliklinik, Ludwig-Maximilian-University of Munich, Germany.
Brain Dev. 1995 Mar-Apr;17(2):117-21. doi: 10.1016/0387-7604(94)00098-i.
Two siblings with Leigh syndrome presenting at the age of 6 months with clinical and radiological features suggestive of a leukodystrophy are reported. A deficiency in complex IV of the respiratory chain (cytochrome c oxidase) was demonstrated in muscle mitochondria of both patients. To our knowledge, this is the first familial case of Leigh syndrome due to cytochrome c oxidase deficiency, presenting clinically and radiologically with signs of a leukodystrophic process. We suggest that respiratory chain enzyme defects should be considered in the differential diagnosis of cases suggestive of a leukodystrophy.
据报道，有两名患有 Leigh 综合征的兄弟姐妹，6 个月大时出现临床和影像学特征，提示为脑白质营养不良。两名患者的肌肉线粒体均显示呼吸链复合体 IV（细胞色素 c 氧化酶）缺乏。据我们所知，这是首例因细胞色素 c 氧化酶缺乏导致的 Leigh 综合征家族病例，临床和影像学表现为脑白质营养不良过程的体征。我们建议，对于提示脑白质营养不良的病例，在鉴别诊断时应考虑呼吸链酶缺陷。
