Open AccessKearns-Sayre Syndrome: -3 Case Reports and Review of Clinical Feature
Author(s) -
Seong-Bae Park,
Kyoung Tak,
Koung Hun Kook,
Sang Yeul Lee
Publication year - 2004
Publication title -
yonsei medical journal/yonsei medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.702
H-Index - 63
eISSN - 1976-2437
pISSN - 0513-5796
DOI - 10.3349/ymj.2004.45.4.727
Subject(s) - kearns–sayre syndrome , medicine , muscle biopsy , ptosis , ataxia , pathology , mitochondrial myopathy , external ophthalmoplegia , dermatology , biopsy , ophthalmology , mitochondrial dna , biology , biochemistry , psychiatry , gene
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.