| Título: | Hypoparathyroidism as the first manifestation of Kearns-sayre syndrome. A case report |
| Autores: |
ASHRAFZADEH, Farah; 1. Department of Pediatric Neurology,
Ghaem Medical Center, Mashhahd
University of Medical Sciences,
Mashhad, Iran GHAEMI, Nosrat; 2. Department of Pediatric Endocrinology, Imam Reza Center, Mashhahd University of Medical Sciences, Mashhad, Iran AKHONDIAN, Javad; 1. Department of Pediatric Neurology, Ghaem Medical Center, Mashhahd University of Medical Sciences, Mashhad, Iran BEIRAGHI TOOSI, Mehran; 3.Department of Pediatric Neurology, Medical Center, Mashhahd University of Medical Sciences, Mashhad, Iran ELMI, saghi; 4. Department of Pediatrics, Ghaem Medical Center, Mashhahd University of Medical Sciences, Mashhad, Iran |
| Fecha: | 2013-04-23 |
| Publicador: | Iranian Journal of Child Neurology |
| Fuente: |
 |
| Tipo: |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Case reports |
| Tema: | Kearns-Sayre; Hypoparathyroidism; Ophthalmoplegia;Mitochondrial cytopathy |
| Descripción: | 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. ObjectiveKearns-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.ReferencesAshizawa 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. |
| Idioma: | Inglés |
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