Kearns–Sayre syndrome: Two case reports and a review for the primary care physician
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 wit...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2023-04-01
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| Series: | Journal of Family Medicine and Primary Care |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/jfmpc.jfmpc_1790_22 |
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| Summary: | 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. |
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| ISSN: | 2249-4863 2278-7135 |