Case Report

Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome

10.4274/jcrpe.0110

  • Nicole Coles
  • Ian Comeau
  • Tatiana Munoz
  • Jennifer Harrington
  • Roberto Mendoza-Londono
  • Andreas Schulze
  • Sari Kives
  • Binita M. Kamath
  • Jill Hamilton

Received Date: 02.05.2018 Accepted Date: 01.07.2018 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 29991465

McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication.

We review the case of a child with MAS whose initial presentation was characterized by severe neonatal cholestasis.

The case demonstrates a severe phenotype of persistent cholestasis in MAS requiring liver transplantation, which has been previously considered to be a more benign feature.

This case highlights the importance of consideration of MAS as an uncommon but important etiology of neonatal cholestasis. Early diagnosis may allow for prompt recognition and treatment of other endocrinopathies.

Keywords: McCune Albright Syndrome, Neonatal cholestasis