Metyrapone as treatment in the neonatal McCune-Albright syndrome

Journal of Pediatric Endocrinology & Metabolism : JPEM
Carmen de MingoAna García-Robles

Abstract

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.

References

Apr 20, 2001·Journal of Pediatric Endocrinology & Metabolism : JPEM·E ZöllnerF Bonnici
May 21, 2008·Orphanet Journal of Rare Diseases·Claudia E Dumitrescu, Michael T Collins
Feb 17, 2010·The Journal of Clinical Endocrinology and Metabolism·Rebecca J BrownMichael T Collins
May 24, 2014·Clinical Biochemistry·Ronda F Greaves
Sep 6, 2015·Journal of Medical Case Reports·Rita LourençoGraça Oliveira
Nov 11, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·S Halioui-LouhaichiA Maherzi
Jun 24, 2017·The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG·Kate VerbeetenJaime McDonald

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