PDF(Pubmed)
Abstract：
Kearns-Sayre syndrome (KSS) is one of the three classic and overlapping phenotypes that result from simplex mitochondrial DNA (mtDNA) deletion syndromes. The rarity of the syndrome has led to a paucity of reported cases in the literature. We present the case of a young female who presented with drooping of her right eyelid, generalized muscle wasting, fatigability of the proximal muscles of her limbs, a nasal twang in her voice, bilateral progressive ophthalmoplegia, and a history of surgically correct ptosis of her left eyelid. Fundoscopy revealed salt-and-pepper-like retinopathy bilaterally. Her electrocardiogram (ECG) findings included an inferior infarct and a left anterior fascicular block. This case highlights the importance of multifaceted investigations and prompt diagnosis in resource-limited settings for effective management in suspected cases of KSS.
摘要：
Kearns-Sayre综合征（KSS）是由单纯性线粒体DNA（mtDNA）缺失综合征引起的三种经典且重叠的表型之一。该综合征的稀有性导致文献中报道的病例很少。我们介绍了一个年轻女性的案例，她的右眼睑下垂，全身肌肉萎缩,她四肢近端肌肉的易疲劳性,她声音里有鼻音,双侧进行性眼肌麻痹，还有手术矫正左眼睑下垂的病史.眼底镜检查显示双侧盐和胡椒样视网膜病变。她的心电图（ECG）发现包括下梗死和左前分支传导阻滞。该案例强调了在资源有限的环境中进行多方面调查和及时诊断的重要性，以有效管理可疑的KSS病例。
