J Korean Soc Neonatol.  2010 May;17(1):136-140.

A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia

• Lim RK
• Byun SY
• Park SS
• Kim YD

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.

Keyword

Galactosemias; Hemangioendothelioma; Neonatal screening; Infant; Newborn

MeSH Terms

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
Galactokinase
Galactose
Galactosephosphates
Portal Vein
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
Uridine Diphosphate
Vascular Malformations
alpha-Fetoproteins