CASE REPORT article
Front. Med.
Sec. Infectious Diseases: Pathogenesis and Therapy
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1575384
Fatal Pneumonia in a Patient with Kearns-Sayre Syndrome Case Report and Literature Review
Provisionally accepted
- Third Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China
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Kearns-Sayre syndrome (KSS) 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.
Keywords: Kearns-Sayre syndrome (KSS), COVID-19, Ptosis, Hypopituitarism, Atrioventricular Block, type 1 diabetes, mitochondrial DNA
Received: 25 Feb 2025; Accepted: 10 Jul 2025.
Copyright: © 2025 Zhang, Song, Zhou, Zhou and Wang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Yaru Zhou, Third Hospital of Hebei Medical University, Shijiazhuang, 050051, Hebei Province, China
Shuchang Wang, Third Hospital of Hebei Medical University, Shijiazhuang, 050051, Hebei Province, China
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