Document Type

Article

Version Deposited

Published Version

Publication Date

4-1-2023

Publication Title

J Family Med Prim Care

DOI

10.4103/jfmpc.jfmpc_1790_22

Abstract

Kearns-Sayre syndrome (KSS) is a mitochondrial encephalopathic disorder. Because mitochondria are ubiquitous organelles that are present in almost every human tissue, their dysfunction can affect nearly any organ system and give rise to a wide range of clinical characteristics. 1: As is the case with most diseases associated with mitochondrial DNA (mtDNA) mutations, the clinical features of KSS were defined before modern molecular genetic classifications emerged. 2: The exact prevalence of KSS is unknown; however, estimates place it at about 1:100,000 people. Although it is a rather rare syndrome, the ability to recognize or consider KSS as part of a differential diagnosis is crucial. Reported here are two case reports: 1) a 30-year-old Caucasian female patient who presented for evaluation to her primary care physician's office and, and 2) A 57-year-old Caucasian female patient long-term C care resident. Guidelines are listed for management as a primary care physician as well as signs and symptoms that are often associated with Kearns-Sayre syndrome and other mitochondrial disorders.

Creative Commons License

Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
This work is licensed under a Creative Commons Attribution-NonCommercial-Share Alike 4.0 International License.

Published Citation

Richmond C, Powell L, Brittingham ZD, Mancuso A. Kearns-Sayre syndrome: two case reports and a review for the primary care physician. Journal of Family Medicine & Primary Care. 2023 Apr;12(4):792-795. doi: 10.4103/jfmpc.jfmpc_1790_22. Epub 2023 Apr 17. PMID: 37312792. PMCID: PMC10259560.

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