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 firs t manifestations of McCune-Albright syndrome. Both went through an extensiv e evaluation including an exploratory laparotomy with peroperative cholangi ography which ruled out biliary atresia, One patient presented fi om the fo urth 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 p atient 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 severi ty of presentation, both patients cleared their jaundice within 6 months, b ut still had mild abnormalities of liver function tests. Both patients Mo s howed an activating mutation of codon 201 in the gene encoding the alpha-su bunit of the G-protein that stimulates adenylcyclase in liver tissue, sugge sting that this metabolic defect could be responsible for the cholestatic s yndrome. Similar mutations have been found in other affected tissues in pat ients with the McCune-Albright syndrome. We propose that McCune-Albright sy ndrome be included in the list for differential diagnosis of neonatal chole st asis and chronic cholestasis of infancy, as a rare cause.