一名17岁委内瑞拉男性以双侧上睑下垂为首发表现的罕见凯-赛综合征病例。
A rare case of Kearns-Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation.
作者信息
Leal Mayela, Dhoble Chetan, Lee Julie, Lopez Deinymar, Menéndez Laura Simonne
机构信息
Universidad del Zulia Facultad de Medicina , Maracaibo, Zulia , Venezuela.
N.K.P. Salve Institute of Medical Sciences and Research Center , Nagpur , India.
出版信息
Oxf Med Case Reports. 2016 Mar 3;2016(3):34-6. doi: 10.1093/omcr/omw007. eCollection 2016 Mar.
Kearns-Sayre syndrome (KSS) was first described in 1958 as 'a rare neuromuscular disorder defined by a characteristic triad of progressive external ophthalmoplegia, pigmentary retinopathy, atrioventricular block and cerebellar ataxia'. The prevalence rate of KSS is ∼1-3 per 100 000 individuals. Here, we report a rare case of a 17-year-old Venezuelan male with KSS.
卡恩斯-塞尔综合征（KSS）于1958年首次被描述为“一种罕见的神经肌肉疾病，其特征为进行性眼外肌麻痹、色素性视网膜病变、房室传导阻滞和小脑共济失调三联征”。KSS的患病率约为每10万人中有1 - 3例。在此，我们报告一例17岁委内瑞拉男性患KSS的罕见病例。
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