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

ABSTRACT: 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.

SUBMITTER: Leal M

PROVIDER: S-EPMC4776051 | biostudies-other | 2016 Mar

REPOSITORIES: biostudies-other

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

Leal Mayela M Dhoble Chetan C Lee Julie J Lopez Deinymar D Menéndez Laura Simonne LS

Oxford medical case reports 20160303 3

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. ...[more]

PMID: 26949540

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