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眼科学校为基础的筛查揭示 Kearns-Sayre 综合征:一例报告。

Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report.

机构信息

Ophthalmology Department "A", Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco.

Neurology Department "B", Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco.

出版信息

Pan Afr Med J. 2022 Mar 18;41:226. doi: 10.11604/pamj.2022.41.226.33085. eCollection 2022.

Abstract

Kearns-Sayre syndrome is a rare mitochondrial disorder. It had a triad of features, including progressive external ophthalmoplegia, pigmentary retinopathy, and an alteration of cardiac conduction. The ocular manifestations include bilateral ptosis, progressive external ophthalmoplegia, and atypical pigmentary retinopathy. We report the case of a 9-year-old Moroccan patient who has been diagnosed with Kearns-Sayre syndrome during an ophthalmologic school-based screening. This case highlights the interest of school-based screening in the diagnosis and management of a rare disease.

摘要

肌阵挛性红核苍白球路易体萎缩症是一种罕见的线粒体疾病。它有三联征特征,包括进行性眼外肌麻痹、色素性视网膜炎和心脏传导改变。眼部表现包括双侧上睑下垂、进行性眼外肌麻痹和非典型色素性视网膜炎。我们报告了一例 9 岁的摩洛哥患者,该患者在眼科学校筛查中被诊断为肌阵挛性红核苍白球路易体萎缩症。该病例突出了学校筛查在诊断和管理罕见疾病方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e386/9167473/99b539d674a6/PAMJ-41-226-g001.jpg

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