Hepatic Lesions Associated with McCune Albright Syndrome

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 recognised to be a rare cause of neonatal cholestasis. We describe the hepatic outcome of three children with MAS referred to a single national liver unit. All presented with high gamma-glutamyl transpeptidase cholestasis and hepatitis. Cholestasis resolved by one year; but hepatic inflammation persisted, and two children developed progressive atypical focal nodular hyperplasia and one 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 (AFP). Address correspondence and reprint requests to Lauren Johansen, MBBS (Hons), MRCPCH, Liver Unit, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B4 6NH, UK (e-mail: ljohansen@nhs.net). Received 20 October, 2018 Accepted 18 December, 2018 Conflicts of interest and source of funding: None declared © 2019 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,

from Gastroenterology via xlomafota13 on Inoreader http://bit.ly/2H3yr7U
via IFTTT