Desnuelle C, Pellissier J F, Serratrice G, Pouget J, Turnbull D M
Clinique des Maladies du Système Nerveux, C.H.U. La Timone, Marseille.
Rev Neurol (Paris). 1989;145(12):842-50.
We report the cases of a 46 year old woman and of a 18 year-old boy who met the criteria for Kearns-Sayre syndrome. Additional atypic features were present in one case: family history, psychosis and acute respiratory failure. In both cases histoenzymatic analysis of the muscle biopsy and biochemical studies of mitochondria isolated from the muscle sample demonstrated mitochondrial myopathy associated with combined partial deficiency of complexes I and IV of the electron transfer chain. Although there is no correlation between clinical and biological data in the mitochondrial myopathies our cases confirm that such defects are involved in Kearns-Sayre syndrome. Improvement with coenzyme Q10 therapy in these patients is reported.
我们报告了1例46岁女性和1例18岁男性符合卡恩斯-塞尔综合征标准的病例。其中1例存在其他非典型特征：家族史、精神病和急性呼吸衰竭。在这两例中，肌肉活检的组织酶分析以及从肌肉样本中分离出线粒体的生化研究均显示出线粒体肌病，伴有电子传递链复合体I和IV的联合部分缺陷。尽管在线粒体肌病中临床和生物学数据之间并无关联，但我们的病例证实了这些缺陷与卡恩斯-塞尔综合征有关。据报道，这些患者接受辅酶Q10治疗后病情有所改善。
