Hypergalactosaemia in a newborn: self-limiting intrahepatic portosystemic venous shunt

Hypergalactosaemia was found in 4 day-old boy during newborn screening. He had no enzyme deficiency but an intrahepatic vascular malformation permitting significant portosystemic venous shunting. The shunt caused hyperammonaemia, accentuated after meals, alimentary hyperglycaemia and hypergalactosaemia, and excess excretion of lactic, 3-hydroxy butyric and other organic acids in urine. Portal venous flow was unimpaired. The vascular anomaly regressed during the first 7 months of life. At this age, full tolerance to lactose-containing cows milk formula was evidenced by the normalization of pre-and postprandial blood glucose, ammonia and galactose, and closure of the shunt was confirmed by ultrasonography. This is one of the few observations of congenital intrahepatic venous shunt regressing spontaneously during infancy. Conclusion A congenital intrahepatic portosystemic venous shunt can cause hypergalactosaemia in the newborn and hyperammonaemia in the small infant. The malformation may resolve spontaneously obviating the need for intervention.