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

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...

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Autores principales: Ennejjar, Amine, Moutamani, Salma, Boutaj, Taha, Touil, Wiame, Amazouzi, Abdellah, Cherkaoui, Ouafa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167473/
https://www.ncbi.nlm.nih.gov/pubmed/35721635
http://dx.doi.org/10.11604/pamj.2022.41.226.33085
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author Ennejjar, Amine
Moutamani, Salma
Boutaj, Taha
Touil, Wiame
Amazouzi, Abdellah
Cherkaoui, Ouafa
author_facet Ennejjar, Amine
Moutamani, Salma
Boutaj, Taha
Touil, Wiame
Amazouzi, Abdellah
Cherkaoui, Ouafa
author_sort Ennejjar, Amine
collection PubMed
description 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.
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spelling pubmed-91674732022-06-17 Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report Ennejjar, Amine Moutamani, Salma Boutaj, Taha Touil, Wiame Amazouzi, Abdellah Cherkaoui, Ouafa Pan Afr Med J Case Report 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. The African Field Epidemiology Network 2022-03-18 /pmc/articles/PMC9167473/ /pubmed/35721635 http://dx.doi.org/10.11604/pamj.2022.41.226.33085 Text en Copyright: Amine Ennejjar et al. https://creativecommons.org/licenses/by/4.0/The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Ennejjar, Amine
Moutamani, Salma
Boutaj, Taha
Touil, Wiame
Amazouzi, Abdellah
Cherkaoui, Ouafa
Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title_full Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title_fullStr Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title_full_unstemmed Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title_short Ophthalmologic school-based screening revealing Kearns-Sayre syndrome: a case report
title_sort ophthalmologic school-based screening revealing kearns-sayre syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9167473/
https://www.ncbi.nlm.nih.gov/pubmed/35721635
http://dx.doi.org/10.11604/pamj.2022.41.226.33085
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