Kearns Sayre syndrome: Case report and review of the literature

Abstract

Kearns Sayre syndrome is a rare disorder resulting from mitochondrial dysfunction .It presents before the
age of twenty and is characterized by progressive external ophtalmoplegia, pigmentary retinal degeneration
plus one of the following: cardiac conduction block, cerebellar involvement or increase of the protein level
of cerebrospinal fluid. It is a neurodegenerative disorder resulting from a single sporadic large scale
deletion of mitochondrial DNA. The presence of red ragged fibers at muscle biopsy is characteristic. We
present a case report and review of the literature.