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Kearns-Sayre syndrome. A case report
S Altunbaşak1, G Bingöl, N Ozbarlas
1Department of Pediatric Neurology, Cukurova University Faculty of Medicine, Adana, Turkey.
Abstract:
Kearns-Sayre syndrome (KSS) is a mitochondrial disorder. There is a large-scale mitochondrial DNA (mtDNA) deletion in most of the case. In this article, a case of KSS who has progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy attacks, type-1 diabetes mellitus, ragged-red fiber (RRF) and lactic acidosis is presented and discussed in light of the literature available on this subjects. Diagnosis is confirmed by determination of mtDNA deletion.
Insights
Kearns-Sayre syndrome (KSS), a mitochondrial disorder, involves large mitochondrial DNA deletions. This case highlights KSS symptoms including vision loss, heart block, and neurological issues, confirmed by mtDNA deletion analysis.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Ophthalmology
Background:
- Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) disorder.
- It is characterized by a large-scale deletion in the mtDNA.
- KSS presents with a variable constellation of symptoms affecting multiple organ systems.
Purpose of the Study:
- To present a comprehensive case study of Kearns-Sayre syndrome (KSS).
- To discuss the clinical manifestations and diagnostic confirmation of KSS.
- To review the available literature on KSS and mtDNA deletions.
Main Methods:
- Clinical case presentation and detailed symptomology.
- Diagnostic confirmation through mitochondrial DNA (mtDNA) deletion analysis.
- Literature review of Kearns-Sayre syndrome (KSS) cases.
Main Results:
- The presented KSS case exhibited progressive external ophthalmoplegia (PEO), retinitis pigmentosa (RP), complete heart block, encephalopathy, type-1 diabetes mellitus, ragged-red fibers (RRF), and lactic acidosis.
- Diagnosis was definitively confirmed by identifying a large-scale mtDNA deletion.
- The findings align with previously reported KSS phenotypes.
Conclusions:
- Kearns-Sayre syndrome (KSS) is a multisystem disorder linked to mtDNA deletions.
- Early diagnosis and recognition of diverse symptoms are crucial for KSS management.
- Further research into mtDNA disorders like KSS is warranted.