Wolfram Syndrome: Report of Two New Cases
| Autor: | Nawal El Ansari, K. Diyane, Ghizlane El Mghari |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
Pediatrics endocrine system diseases Wolfram syndrome business.industry Disease Progressive neurodegenerative disorder Sensorineural deafness medicine.disease eye diseases Atrophy Endocrinology Diabetes mellitus Internal medicine Diabetes insipidus otorhinolaryngologic diseases medicine business |
| Zdroj: | Journal of Endocrinology and Diabetes Mellitus. 2:122-124 |
| ISSN: | 2310-9971 |
| DOI: | 10.12970/2310-9971.2014.02.03.2 |
| Popis: | Wolfram Syndrome (WFS) is a rare autosomal recessive disease. It is a progressive neurodegenerative disorder in which patients present with diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural deafness, urologic abnormalities and multiple neurological abnormalities. This study reports two sisters with late diagnosed wolfram syndrome with diabetes insipidus, diabetes mellitus, optic atrophy, deafness and urological abnormalities. The condition should be evaluated in a multidisciplinary attitude and specific tests are necessary to make a precise diagnosis of the syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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