Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome.

Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome. J Clin Res Pediatr Endocrinol. 2018 Jul 11;: Authors: Coles N, Comeau I, Munoz T, Harrington J, Mendoza-Londono R, Schulze A, Kives S, Kamath BM, Hamilton J Abstract 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. PMID: 29991465 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research