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Journal of the Korean Society of Neonatology 2010;17(1):136-140.
Published online May 1, 2010.
A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia.
Ryoung Kyoung Lim, Shin Yun Byun, Seong Shik Park, Young Don Kim
1Department of Pediatrics, Pusan National University Children's Hospital, Pusan National University School of Medicine, Busan, Korea.
2Department of Pediatrics, Jeju National University Hospital, University of Jeju School of Medicine, Jeju, Korea. cardios@hanmail.net
선천성 갈락토스혈증으로 오인된 신생아 간 내 혈관내피종 1례
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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.
Key Words: Galactosemias; Hemangioendothelioma; Neonatal screening; Infant; Newborn


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