Iranian Journal of Neonatology

Iranian Journal of Neonatology

Hypoparathyroidism as the First Mani-Festation of Kearns-Sayre Syndrome: A Case Report

Document Type : Case Report

Authors
Farah Ashrafzadeh 1
Nosrat Ghaemi 2
Javad Akhondian 1
Mehran Beiraghi Toosi 3
Saghi Elmi 4
1 Professor of pediatric neurology, Ghaem Medical Center, Mashhad, Iran
2 Professor of Pediatric Endocrinology, Imam Reza Center, Mashhad, Iran
3 Fellowship of Pediatric Neurology, Medical Center, Mashhad, Iran
4 Pediatrician, Ghaem Medical Center, Mashhad, Iran
10.22038/ijn.2014.3111
Abstract
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.
Keywords
Hypoparathyroidism
Kearns-Sayre
Mitochondrial cytopathy
Ophthalmoplegia
Iranian Journal of Neonatology
Volume 5, Abstract
Autumn 2014
Pages 2-2