hypoparathyroidism as the first manifestation of kearns-sayre syndrome. a case report

hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report   how to cite this article: ashrafzadeh f, ghaemi n, akhondian j, beiraghi toosi m, elmi s. hypoparathyroidism as the first manifestation of kearns-sayre syndrome: a case report. iran j child neurol. 2013 autumn;7(4):53-57.     objective kearns-sayre syndrome is a mitochondrial myopathy, which was first described by tomas kearn in 1958. diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (csf) protein content above 100 mg/dl. the nature of this uncommon disease is yet to be clarified. in this paper, we report a case of kearns-sayre syndrome. according to the previous records, the first manifestation of kearns-sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem. references ashizawa t, subramony sh. what is kearns-sayer syndrome after all? arch neurol 2001;58(7):1053-4. barragan-campos hm, vallee jn, lo d, barrera-ramirez cf, argote-greene m, sanchez-guerrero j, et al. brain magnetic resonance imaging findings in patients with mitochondrial cytopathies. arch neurol 2005;62(5):737-42. amemiya s, hamamoto m, goto y, komaki h, nishino i, nonaka i, et al. psychosis and progressive dementia: presenting features of a mitochondriopathy. neurology 2000;55(4):600-1. katsanos kh, pappas cj, patsouras d, michalis lk, kitsios g, elisaf m, et al. alarming atrioventricular block and mitral valve prolapse in the kearns-sayer syndrome. int j cardiol 2002;83(2):179-81. tiranti v, viscomi c, hildebrandt t, di meo i, mineri r, tiveron c, et al. loss of ethe1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. nat med 2009;15(2):200–5. chinnery pf, dimauro s, shanske s, schon ea, zeviani m, mariotti c, et al. risk of developing a mitochondrial dna deletion disorder. lancet 2004;364(9434):592–6. bosbach s, kornblum c, schröder r, wagner m. executive and visuospatial deficits in patients with chronic progressive external ophthalmoplegia and kearns-sayer syndrome. brain 2003;126(pt 5):1231-40. berenberg ra, pellock jm, dimauro s, schotland dl, bonilla e, eastwood a, et al. lumping or splitting? “ophthalmoplegia-plus” or kearns-sayer syndrome? ann neurol 1977;1(1):37-54. welzing l, von kleist-retzow jc, kribs a, eifinger f, huenseler c, sreeram n. rapid development of life threatening complete atrioventricular block in kearns-sayer syndrome. eur j pediatr 2009;168(6):757-9. berio a, piazzi a. kearns-sayer syndrome with gh deficiency. pediatr med chir 2000;22:43-6. schmiedel j, jackson s, schäfer j, reichmann h. mitochondrial cytopathies. j neurol 2003;250(3):267-77. chu bc, terae s, takahashi c, kikuchi y, miyasaka k, abe s, et al. mri of the brain in the kearns-sayer syndrome: report of four cases and a review. neuroradiology 1999;41(10):759-64. altunbaşak s, bingöl g, ozbarlas n, akçören z, hergüner o. kearns-sayer syndrome. a case report. turk j pediatr 1998;40(2):255-9. chawla s, coku j, forbes t, kannan s. kearns-sayer syndrome presenting as complete heart block. pediatr cardiol 2008;29(3):659-62. gregoratos g, abrams j, epstein ae, freedman ra, hayes dl, hlatky ma, et al. acc/aha/naspe 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the american college of cardiology/american heart association task force on practice guidelines (acc/ aha/naspe committee to update the 1998 pacemaker guidelines). circulation 2002;106(16):2145-61. basu ap, posner e, mcfarland r, turnbull dm. kearnsayre syndrome. medscape reference. feb 4, 2010.http://emedicine.medscape.com/article/950897.