A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia.
- Author:
Ryoung Kyoung LIM
1
;
Shin Yun BYUN
;
Seong Shik PARK
;
Young Don KIM
Author Information
1. Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Busan, Korea.
- Publication Type:Case Report
- Keywords:
Galactosemias;
Hemangioendothelioma;
Neonatal screening;
Infant;
Newborn
- MeSH:
alpha-Fetoproteins;
Galactokinase;
Galactose;
Galactosemias;
Galactosephosphates;
Hemangioendothelioma;
Hemangioma;
Humans;
Infant;
Infant, Newborn;
Liver;
Magnetic Resonance Imaging;
Male;
Neonatal Screening;
Portal Vein;
Reference Values;
UDPglucose-Hexose-1-Phosphate Uridylyltransferase;
Uridine Diphosphate;
Vascular Malformations
- From:Journal of the Korean Society of Neonatology
2010;17(1):136-140
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Galactosemia is a group of inherited enzyme deficiencies characterized by increase in the blood galactose levels. This condition may be associated with deficiencies of galactose-1-phosphate uridyl transferase, galactokinase, or uridine diphosphate galactose-4-epimerase. However, the elevated galactose identified by neonatal screening tests has several other possible etiologies, including hepatic hemangioendothelioma, hepatic hemangioma, and patent ductus venosus with hypoplasia of the portal vein. We report a 13-day-old Korean male with hepatic hemangioendothelioma, which was incidentally detected during the evaluation for suspected galactosemia. Laboratory studies revealed that mildly elevated levels of galactose, galactose-1-phosphate and alpha-fetoprotein, at the time of admission, were gradually decreased to the normal range over the 6 months of observation. Ultrasonography showed a well-defined heterogeneous hypoechoic mass in the liver, and magnetic resonance imaging study showed multiple enhanced mass lesions, which was compatible with the diagnosis of a hepatic hemangioendothelioma. Thus, hepatic imaging, especially ultrasonography, should be performed if neonatal screening suggests galactosemia.
