Park Seong Bae, Ma Kyoung Tak, Kook Koung Hun, Lee Sang Yeul
The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 134 Shinchon-dong, Seodaemun-gu, Seoul 120-752, Korea.
Yonsei Med J. 2004 Aug 31;45(4):727-35. doi: 10.3349/ymj.2004.45.4.727.
Kearns-Sayre syndrome, first described by Kearns and Sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change (salt-pepper like appearance). Most cases have shown an increase in the concentration of mitochondria and ragged-red fiber under Gomori-trichrome staining on muscle biopsy. Occasionally, it is combined with other neurologic and endocrinologic symptoms such as ataxia, dementia, diabetes, and hyperaldosteronism. We recently experienced three cases of male teenaged patients who expressed the clinical features of Kearns-Sayre syndrome.
卡恩斯-塞尔综合征于1958年由卡恩斯和塞尔首次描述，是一种罕见的疾病，其症状包括上睑下垂、双眼活动受限以及非典型视网膜色素沉着改变（椒盐样外观）。大多数病例在肌肉活检的戈莫里三色染色下显示线粒体浓度增加和破碎红纤维。偶尔，它会与其他神经和内分泌症状合并出现，如共济失调、痴呆、糖尿病和醛固酮增多症。我们最近遇到了三例表现出卡恩斯-塞尔综合征临床特征的男性青少年患者。
