Metyrapone as treatment in the neonatal McCune–Albright syndrome
| Autor: | Tomás Palanques-Pastor, Ana García-Robles, Carmen de Mingo, María Brugada, Nieves Vila, Francisca Moreno, Carlos Orti, Sara León, José Luis Poveda |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty medicine.diagnostic_test Metyrapone business.industry Endocrinology Diabetes and Metabolism Magnetic resonance imaging medicine.disease McCune–Albright syndrome 03 medical and health sciences 0302 clinical medicine Endocrinology Dysplasia 030225 pediatrics Pediatrics Perinatology and Child Health Failure to thrive medicine medicine.symptom Hepatic dysfunction business Cortisol level 030217 neurology & neurosurgery Rare disease medicine.drug |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 33:1093-1096 |
| ISSN: | 2191-0251 0334-018X |
| Popis: | Objectives To present a case report of succesfully metyrapone treatment of a neonatal patient with McCune–Albrigth syndrome (MAS), a rare disease caused by a genetically mosaic disorder and is characterized by variable hyperfunctional endocrinopathies, bone dysplasia, and café-au-lait spots. Case presentation A preterm newborn was admitted to hospital and she presented difficulty controlling hypertension, café-au-lait spots, and failure to thrive. An abdominal ultrasound and a magnetic resonance showed a high volume of both suprarenal glands. Therefore, MAS was suspected. Laboratory data confirmed adrenocorticotropic hormone-independent Cushing’s syndrome with hepatic dysfunction and metyrapone treatment was initiated. A progressive normalization of cortisol levels was achieved despite poor oral tolerance. Conclusion Our case shows that metyrapone is useful in the management of neonatal Cushing’s syndrome due to McCune–Albright syndrome. |
| Databáze: | OpenAIRE |
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