Kearns Sayre Syndrome: A Rare Cause of Mitochondrial Diabetes and Hypogonadotropic Hypogonadism
Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, seconda...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2025-02-01
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| Series: | Case Reports in Clinical Practice |
| Subjects: | |
| Online Access: | https://crcp.tums.ac.ir/index.php/crcp/article/view/1010 |
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| Summary: | Kearns-Sayre syndrome is a rare mitochondrial disease that presents before the age of 20 years with ptosis, external ophthalmoplegia, and pigmentary retinopathy associated with endocrine and cardiac conduction abnormalities. Here we report an 18-year-old female presenting with fever, cough, secondary amenorrhea, diabetes ptosis, external ophthalmople gia, and ataxia . Fundosc opy revealed pigmen tary retinopathy. ECG showed intraventricular conduction abnormalities, and 2D echocardiography revealed global left ventricular hypokinesia with reduced ejection fraction. Hence, the diagnosis of Kearns-Sayre syndrome was made.
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| ISSN: | 2538-2683 2538-2691 |