A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation

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...

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Detalles Bibliográficos
Autores principales: Leal, Mayela, Dhoble, Chetan, Lee, Julie, Lopez, Deinymar, Menéndez, Laura Simonne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776051/
https://www.ncbi.nlm.nih.gov/pubmed/26949540
http://dx.doi.org/10.1093/omcr/omw007
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author Leal, Mayela
Dhoble, Chetan
Lee, Julie
Lopez, Deinymar
Menéndez, Laura Simonne
author_facet Leal, Mayela
Dhoble, Chetan
Lee, Julie
Lopez, Deinymar
Menéndez, Laura Simonne
author_sort Leal, Mayela
collection PubMed
description 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.
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spelling pubmed-47760512016-03-04 A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation Leal, Mayela Dhoble, Chetan Lee, Julie Lopez, Deinymar Menéndez, Laura Simonne Oxf Med Case Reports Case Reports 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. Oxford University Press 2016-03-03 /pmc/articles/PMC4776051/ /pubmed/26949540 http://dx.doi.org/10.1093/omcr/omw007 Text en © The Author 2016. Published by Oxford University Press. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Reports
Leal, Mayela
Dhoble, Chetan
Lee, Julie
Lopez, Deinymar
Menéndez, Laura Simonne
A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title_full A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title_fullStr A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title_full_unstemmed A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title_short A rare case of Kearns–Sayre syndrome in a 17-year-old Venezuelan male with bilateral ptosis as the initial presentation
title_sort rare case of kearns–sayre syndrome in a 17-year-old venezuelan male with bilateral ptosis as the initial presentation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776051/
https://www.ncbi.nlm.nih.gov/pubmed/26949540
http://dx.doi.org/10.1093/omcr/omw007
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