PO-0823 Hypoparathyroidism As The First Manifestation Of Kearns-sayre Syndrome: A Case Report
| Autor: | Reza Erfani Sayyar, Sam Elmi, Saghi Elmi |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Pathology
medicine.medical_specialty Pediatrics Neuromuscular disease Cerebellar ataxia business.industry External ophthalmoplegia medicine.disease Kearns–Sayre syndrome Cerebrospinal fluid Mitochondrial myopathy Hypoparathyroidism Pediatrics Perinatology and Child Health Retinitis pigmentosa medicine medicine.symptom business |
| Zdroj: | Archives of Disease in Childhood. 99:A523.1-A523 |
| ISSN: | 1468-2044 0003-9888 |
| DOI: | 10.1136/archdischild-2014-307384.1456 |
| Popis: | Objective Kearns-Sayre syndrome is a mitochondrial myopathy, which was first described by Tomas Kearn in 1958. Diagnostic symptoms include retinitis pigmentosa, chronic and progressive external ophthalmoplegia plus one or more of following factors: heart conduction system disorders, cerebellar ataxia, or cerebrospinal fluid (CSF) protein content above 100 mg/dL. The nature of this uncommon disease is yet to be clarified. In this paper, we report a case of Kearns-Sayre syndrome. According to the previous records, the first manifestation of Kearns-Sayre syndrome as hypoparathyroidism is uncommon and in this article, we report a case with this problem. |
| Databáze: | OpenAIRE |
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