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

Lim, Ryoung-Kyoung (Department of Pediatrics, Pusan National University Children’s Hospital Pusan National University School of Medicine)
Byun, Shin-Yun (Department of Pediatrics, Pusan National University Children’s Hospital Pusan National University School of Medicine)
Park, Seong-Shik (Department of Pediatrics, Pusan National University Children’s Hospital Pusan National University School of Medicine)
Kim, Young-Don (Department of Pediatrics, Jeju National University Hospital University of Jeju School of Medicine)
Publication Information
Neonatal Medicine / v.17, no.1, 2010 , pp. 136-140 More about this Journal
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 graduallydecreased 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.
Keywords
Galactosemias; Hemangioendothelioma; Neonatal screening; Infant; Newborn;
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