Literature DB >> 15344217

Kearns-Sayre syndrome -3 case reports and review of clinical feature.

Seong Bae Park1, Kyoung Tak Ma, Koung Hun Kook, Sang Yeul Lee.   

Abstract

Kearns-Sayre syndrome, first described by Kearns and Sayre in 1958, is a rare disorder consisting of ptosis, limited movement of both eyes and atypical retinal pigmentary change (salt-pepper like appearance). Most cases have shown an increase in the concentration of mitochondria and ragged-red fiber under Gomori-trichrome staining on muscle biopsy. Occasionally, it is combined with other neurologic and endocrinologic symptoms such as ataxia, dementia, diabetes, and hyperaldosteronism. We recently experienced three cases of male teenaged patients who expressed the clinical features of Kearns-Sayre syndrome.

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Year:  2004        PMID: 15344217     DOI: 10.3349/ymj.2004.45.4.727

Source DB:  PubMed          Journal:  Yonsei Med J        ISSN: 0513-5796            Impact factor:   2.759


  8 in total

1.  [Kearns-Sayre syndrome : a mitochondrial disease (OMIM #530000)].

Authors:  W J Mayer; M Remy; G Rudolph
Journal:  Ophthalmologe       Date:  2011-05       Impact factor: 1.059

2.  Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion.

Authors:  Leonardo Vedolin; Carolina Fischinger Moura de Souza; Rogério Schwark Silveira; Bianca Cunha Lopes; Leticia Saldanha Laybauer; Maria Luiza Saraiva Pereira; Roberto Giugliani
Journal:  Childs Nerv Syst       Date:  2006-03-22       Impact factor: 1.475

3.  Spinocerebellar ataxia: a rational approach to aetiological diagnosis.

Authors:  Adrian Degardin; Dries Dobbelaere; Isabelle Vuillaume; Sabine Defoort-Dhellemmes; Jean-François Hurtevent; Bernard Sablonnière; Alain Destée; Luc Defebvre; David Devos
Journal:  Cerebellum       Date:  2012-03       Impact factor: 3.847

Review 4.  Mitochondria: a hub of redox activities and cellular distress control.

Authors:  Poonam Kakkar; B K Singh
Journal:  Mol Cell Biochem       Date:  2007-06-12       Impact factor: 3.396

5.  Treatment of Eyelid Ptosis due to Kearns-Sayre Syndrome Using Frontalis Suspension.

Authors:  Laurenz Weitgasser; Gottfried Wechselberger; Florian Ensat; Rene Kaplan; Michaela Hladik
Journal:  Arch Plast Surg       Date:  2015-03-16

6.  Clinical and Brain Magnetic Resonance Imaging Features in a Cohort of Chinese Patients with Kearns-Sayre Syndrome.

Authors:  Meng Yu; Zhe Zhang; Qing-Qing Wang; Jing Liu; Yue-Huan Zuo; Lei Yu; Jiang-Xi Xiao; Wei Zhang; Yun Yuan; Zhao-Xia Wang
Journal:  Chin Med J (Engl)       Date:  2016-06-20       Impact factor: 2.628

7.  Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNALys (m.8340G>A) gene variant.

Authors:  Jaidip S Gill; Steven A Hardy; Emma L Blakely; Sila Hopton; Andrea H Nemeth; Carl Fratter; Joanna Poulton; Robert W Taylor; Susan M Downes
Journal:  Br J Ophthalmol       Date:  2017-07-20       Impact factor: 4.638

8.  Ophthalmoplegia in Mitochondrial Disease.

Authors:  Sang Jun Lee; Ji Hoon Na; Jinu Han; Young Mock Lee
Journal:  Yonsei Med J       Date:  2018-12       Impact factor: 2.759

  8 in total

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