Carmen de Mingo, María Brugada, Sara León, Francisca Moreno, Nieves Vila, Tomás Palanques-Pastor, José Luis Poveda, Carlos Orti, Ana García-Robles
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...
July 22, 2020: Journal of Pediatric Endocrinology & Metabolism: JPEM