Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening.
- Author:
Joo Hee HONG
1
;
Joo Pil UM
;
Byung Ho CHA
;
Baek Keun LIM
;
Jong Soo KIM
Author Information
1. Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea. limbk@wonju.ac.kr
- Publication Type:Case Report
- Keywords:
Neonatal screening;
Hypergalactosemia;
Intrahepatic arterio-venous shunts
- MeSH:
Galactokinase;
Galactose;
Hemangioma;
Humans;
Infant, Newborn;
Mass Screening;
Milk;
Neonatal Screening*;
Plasma;
Reference Values;
Ultrasonography;
Ultrasonography, Doppler, Color;
Uridine Diphosphate
- From:Journal of the Korean Society of Neonatology
2004;11(1):87-92
- CountryRepublic 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.
