Clinical Experience from a Single Tertiary Care Center: Neonatal Diabetes Mellitus with Multiple Epiphyseal Dysplasia—Wolcott–Rallison's Syndrome
| Autor: | Shantala J., Zalak Upadhyay, Vani H. N., Santhosh Olety Sathyanarayana, Raghupathy Palany, Shruthi J. |
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| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Journal of Pediatric Genetics. |
| ISSN: | 2146-460X 2146-4596 |
| Popis: | Wolcott–Rallison's syndrome (WRS) is a rare nonautoimmune autosomal recessive disorder characterized by neonatal diabetes mellitus, epiphyseal dysplasia, and growth retardation. This is the most common cause of diabetes mellitus in patients with consanguineous parents. WRS is distinguished from other types of neonatal or early-onset diabetes by clinical characteristics and genetic testing. Here, we report four cases of WRS from South India. All four children reported here were born to consanguineous parents and were diagnosed with neonatal diabetes and skeletal dysplasia. Case 1 is a 13-year-old girl with neonatal diabetes and skeletal dysplasia. Case 2 is a 6-month-old male infant who also has primary hypothyroidism. Case 3 was a girl who lived until the age of 4 years before succumbing to liver failure. Case 4 is an 8-month-old female infant born to a third-degree married couple who presented with neonatal diabetes and diabetic ketoacidosis. Genetic testing revealed that she had WRS, which helps us in the anticipation and early treatment of complications. |
| Databáze: | OpenAIRE |
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