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
Descripción
Sumario: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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