Document Type: Case Report
Professor of pediatric neurology, Ghaem Medical Center, Mashhad, Iran
Professor of Pediatric Endocrinology, Imam Reza Center, Mashhad, Iran
Fellowship of Pediatric Neurology, Medical Center, Mashhad, Iran
Pediatrician, Ghaem Medical Center, Mashhad, Iran
Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms of this condition include retinitis pigmentosa, chronic progressive external ophthalmoplegia, and one or more of the following factors: cardiac conduction system diseases, cerebellar ataxia, and cerebrospinal fluid (CSF) with protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. According to previous reports, it is uncommon to see hypoparathyroidism as the first manifestation of Kearns-Sayre syndrome. Herein, we report a case of Kearns-Sayre syndrome, with hypoparathyroidism as the first manifestation.