Open AccessHepatic Lesions Associated With McCune Albright Syndrome
Author(s) -
Johansen Lauren,
Haller Wolfram,
Thyagarajan Manigandan,
Kelly Deirdre,
McKiernan Patrick
Publication year - 2019
Publication title -
journal of pediatric gastroenterology and nutrition
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 1.206
H-Index - 131
eISSN - 1536-4801
pISSN - 0277-2116
DOI - 10.1097/mpg.0000000000002266
Subject(s) - medicine , mccune–albright syndrome , gnas complex locus , hepatoblastoma , cholestasis , fibrous dysplasia , precocious puberty , pseudohypoparathyroidism , endocrinology , differential diagnosis , neonatal cholestasis , pathology , gastroenterology , hormone , biliary atresia , biochemistry , chemistry , transplantation , liver transplantation , gene , parathyroid hormone , calcium
McCune‐Albright syndrome (MAS) results from a GNAS gene mutation. It is associated with café au lait macules, fibrous dysplasia, and several endocrinopathies to include gonadotropin‐independent precocious puberty, growth hormone excess, Cushing syndrome, thyroid disease, and renal phosphate wasting. It is recognized to be a rare cause of neonatal cholestasis. We describe the hepatic outcome of 3 children with MAS referred to a single national liver unit. All presented with high gamma‐glutamyl transpeptidase cholestasis and hepatitis. Cholestasis resolved by 1 year; but hepatic inflammation persisted, and 2 children developed progressive atypical focal nodular hyperplasia and 1 developed hepatoblastoma. This the first reported malignant hepatic lesion associated with MAS. MAS should be considered part of the differential diagnosis of neonatal cholestasis and affected children should be closely monitored for the development of hepatic lesions with regular liver ultrasound and alpha fetoprotein level.