斉藤 泰博¹, 吉川 大平¹, 山田 有則¹, 峯田 昌之¹, 油野 民雄¹, 蒔田 芳男²

Yasuhiro SAITOH¹, Daihei YOSHIKAWA¹, Tomonori YAMADA¹, Masayuki MINETA¹, Tamio ABURANO¹, Yoshio MAKITA²

¹旭川医科大学放射線科, ²旭川医科大学小児科

¹Department of Radiology, Asahikawa Medical University and Hospital, ²Department of Pediatrics, Asahikawa Medical University and Hospital

キーワード : Anomalous vessel, Hypergalactosemia, Infantile hemangioma, Portosystemic shunt, Ultrasound

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.