ArticleFrontiers in medicine2025
Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review.
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
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5 authors.
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Abstract
Kearns-Sayre syndrome is a mitochondrial DNA deletion disorder, classically characterized by a triad of onset before the age of 20, pigmentary retinopathy, and chronic progressive external ophthalmoplegia (CPEO). The condition is frequently associated with third-degree atrioventricular block, endocrine dysfunction, and short stature. Here, we report a case of KSS presenting with a progressive clinical course that began at birth with ptosis and later developed type 1 diabetes, hypopituitarism, and third-degree atrioventricular block. Genetic analysis of a urine sample revealed a large-scale mitochondrial DNA deletion, confirming the diagnosis of KSS. The patient ultimately died from severe pneumonia precipitated by COVID-19 infection.
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