KEARNS-SAYRE SYNDROME: A CASE WITH LITERATURE REVIEW

Yıl 2003, Cilt: 16 Sayı: 2, 116 - 120, 03.12.2016

Filiz Koç Suzan Zorludemir Yakup Sarıca

Öz

Kearns-Sayre Syndrome is a rare mitochondrial disorder which is caused by mitochondrial DNA deletion. It has a typical triad of progressive external ophthalmoplegia, pigmentary retinopathy, and heart block. Multisystem involvements may frequently be associated with these features. Ragged red fibers are shown in histopathological examination and these findings can be confirmed by electronmicrography. In this article, a 17-year-old male who had this triad and other clinical conditions, such as short stature, sensorineural hearing loss, lactic acidosis, and hypogonadism was presented in the light of the literature review.
Key Word: Kearns Sayre Syndrome, Clinical, laboratory and histopathological findings.

Kaynakça

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