Moustaine Moulay O, Azemour Zakaria, Mohammed Frarchi, Benlanda Othman, Nassik Hicham, Karkouri Mehdi
Department of Ophthalmology, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University, Agadir, Morocco.
Department of Anesthesia Resuscitation, CHU Souss Massa, Faculty of Medicine and Pharmacy, Ibn Zohr University, Agadir, Morocco.
Arch Plast Surg. 2024 Apr 8;51(2):182-186. doi: 10.1055/a-2207-7587. eCollection 2024 Mar.
Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad: age of onset lower than 20 years, chronic progressive external ophthalmoplegia, and an atypical pigmentary retinopathy. It is also characterized by other endocrine, neurological, and especially cardiac impairment with a very high risk of cardiac complications during surgical procedures under all types of anesthesia. We report a case of KSS revealed by severe bilateral ptosis and confirmed by a muscle biopsy with "ragged red fibers." The ptosis was surgically managed by cautious Frontal suspension under local anesthesia "Frontal nerve block." Through this case, we discuss challenges in the management of KSS patients.
卡恩斯-塞尔综合征(KSS)是一种罕见的线粒体疾病,影响年轻成年人,由线粒体DNA缺失引起,其特征为三联征:发病年龄低于20岁、慢性进行性眼外肌麻痹和非典型色素性视网膜病变。它还具有其他内分泌、神经方面的特征,尤其是心脏损害,在所有类型麻醉下的外科手术过程中发生心脏并发症的风险非常高。我们报告一例以严重双侧上睑下垂为首发表现、经肌肉活检发现“破碎红纤维”确诊的KSS病例。上睑下垂通过在局部麻醉(“额神经阻滞”)下谨慎进行额肌悬吊术进行手术治疗。通过这个病例,我们讨论了KSS患者管理中的挑战。