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Kearns-Sayre Syndrome: The Importance of Early Recognition

Am J Dis Child. 1977;131(6):711-712. doi:10.1001/archpedi.1977.02120190105025.
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Progressive external ophthalmoplegia, retinitis pigmentosa, and heart block (Kearns-Sayre syndrome) is a rare disorder that most commonly begins in childhood, with ptosis as the initial sign.1 The syndrome has not been presented before in the pediatric literature, and all previous cases of the disorder have been reported in the adult neurological or ophthalmological literature where debate has centered mainly about the pathogenesis of the disorder. It has been emphasized recently that, with the advent of pacemaker treatment of heart block, early recognition of the syndrome has taken on potentially therapeutic significance.2

This case report is of a young woman who has been observed in the Pediatric Neurology Clinic at the Yale-New Haven Hospital since the age of 11 years with the characteristic signs of the Kearns-Sayre syndrome, and who also has juvenile diabetes mellitus. The latter has not previously been reported with this syndrome and its significance is


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