Journal of the Korean Society of Neonatology  2004;11(1):87-92

Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening.

Joo Hee HONG 1 ; Joo Pil UM ; Byung Ho CHA ; Baek Keun LIM ; Jong Soo KIM

Affiliations

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Keywords

Neonatal screening; Hypergalactosemia; Intrahepatic arterio-venous shunts

Country

Republic of Korea

Language

Korean

Abstract

We report a case of 15 days old newborn presenting with hypergalactosemia detected by newborn screening who had intrahepatic arterio-venous shunts with multiple pin-head sized cutaneous hemangiomas. Plasma level of galactose was elevated to 11.3 mg/dL at age of 7 days, but the activity of galactose-metabolizing enzymes including galactose-1- phosphate uridyltransferase, galactokinase, and uridine diphosphate galactose-4-epimerase were all normal. Intrahepatic arterio-venous shunts were diagnosed by abdominal ultrasonography with color doppler ultrasonography and abdominal computed tomography. At age of 3 months, the plasma level of galactose further elevated to 14.73 mg/dL, at which time lactose-free cows milk formula was started. At age of 6 months, the plasma level of galactose decreased to within normal range with disappearance of previously noted multiple cutaneous hemangiomas. In hypergalactosemia of the newborn, the intrahepatic shunts should be considered as a possible cause, once hereditary enzyme deficiencies have been ruled out.