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Archivos de Medicina Interna
versão impressa ISSN 0250-3816versão On-line ISSN 1688-423X
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NARIO, Luciana; GUTIERREZ, María Inés e PEREZ, Carolina. Kearns-Sayre Syndrome. Arch. Med Int [online]. 2013, vol.35, n.2, pp.59-61. ISSN 0250-3816.
Abstract The Kearns Sayre syndrome is the result of abnormalities in the mitochondria characterized by multiorgan dysfunctions, which develops before the age of twenty. This rare illness was described by Thomas P. Kearns y George P. Sayre in 1958 through the report of a case which presented the clinical triad, external ophthalmoplegia, pigmentary retinopathy and cardiac conduction defects; being this last alteration the one that determines the prognosis. There is still no treatment for this illness. In this article, is presented a case of a 39-years-old patient to whom the diagnosis of Kearns-Sayre has been made.
Palavras-chave : Kearns-Sayre Syndrome; Mitochondrial disease; Ophthalmoplegia; Ragged red.