Two cases of hypergalactosema without enzyme deficiencies are reported. In case 1, mass screening for galactosemia detected
hypergalactosema in a 2-month-old infant. Ultrasonography showed several hepatic hemangiomas, and color Doppler and pulse
Doppler examination suggested the existence of A-V shunting. The hepatic hemangiomas disappeared spontaneously 6 months
later, however. Case 2 was that of a 7-year-old boy who was being followed for hypergalactosemia and hyperammonemia.
Portacaval shunting caused by an anomalous vessel, and hypoplasia of the intrahepatic portal vein were confirmed by
ultrasonography and angiography. Pulse Doppler examination suggested that portosystemic shunting rate was over 90%.
Portosystemic shunting, A-V shunting, or both, should be considered possible causes in these two cases of hypergalactosemia.
We conclude that ultrasonography is a valuable noninvasive modality in the diagnosis of hypergalactosemia without enzyme
deficiencies and can be used to determine both the existence of vascular shunting and shunting rate.