A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
Journal of the Korean Society of Neonatology
;
: 136-140, 2010.
Article
in Korean
| WPRIM
| ID: wpr-223414
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Portal Vein
/
Reference Values
/
Uridine Diphosphate
/
Magnetic Resonance Imaging
/
Alpha-Fetoproteins
/
Neonatal Screening
/
Vascular Malformations
/
Galactokinase
/
Galactose
/
Galactosemias
Limits:
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Korean
Journal:
Journal of the Korean Society of Neonatology
Year:
2010
Type:
Article
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