Demonstration of McCune-Albright mutations in the liver of children with high gamma GT progressive cholestasis

Two patients presented with neonatal cholestasis and acholic stools as first manifestations of McCune-Albright syndrome. Both went through an extensive evaluation including an exploratory laparotomy with peroperative cholangiography which ruled out biliary atresia, One patient presented fi om the fourth month of life with the classical cafe-au-lait spots following Blaschko's lines, while less classical cafe-au-lait spots were seen in the second patient at the age of 4 years, Bone lesions were seen in one patient at the age of 2.5 years and in the other at the age of 4 years, Despite the severity of presentation, both patients cleared their jaundice within 6 months, but still had mild abnormalities of liver function tests. Both patients Mo showed an activating mutation of codon 201 in the gene encoding the alpha-subunit of the G-protein that stimulates adenylcyclase in liver tissue, suggesting that this metabolic defect could be responsible for the cholestatic syndrome. Similar mutations have been found in other affected tissues in patients with the McCune-Albright syndrome. We propose that McCune-Albright syndrome be included in the list for differential diagnosis of neonatal cholest asis and chronic cholestasis of infancy, as a rare cause.