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英文誌(2004-)

Journal of Medical Ultrasonics

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1996 - Vol.23

Vol.23 No.06

Case Report(症例報告)

(0455 - 0460)

超音波検査が診断に有用であった酵素異常を伴わない高ガラクトース血症

Hypergalactosemia Without Enzyme Deficiency: The Usefulness of Ultrasound in Imaging Diagnosis

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.