Congenital disorders of the biliary ducts

Congenital disorders of the bile ducts manifesting as neonatal cholestasis, are: biliary atresia, Alagille syndrome and neonatal sclerosing cholangitis. Biliary atresia must be considered as a neonatal surgical emergency: diagnosis and therapeutic intervention should be completed before one month of age. Survival at 10 years is about 70%, 14% without and 56% with liver transplantation. The cause of the disease is unknown. Alagille syndrome is defined by the association of bile duct paucity, pulmonary stenosis, butterfly-like vertebrae, peculiar facies and posterior embryotoxon. JAGGEDI gene mutations have been identified allowing prenatal diagnosis. The diagnosis of neonatal sclerosing cholangitis can only be performed by cholangiography.