선천성 갈락토스혈증으로 오인된 신생아 간 내 혈관내피종 1례
A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
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초록
신생아 선천성 대사이상 선별검사에서 갈락토스혈증이 의심되는 경우, 혈관내피종과 같은 간 실질 내 종양을 동반할 수 있으므로 갈락토스혈증 관련 효소검사와 함께 간초음파 검사와 같은 영상학적 진단법, 총담즙산, AFP 등의 측정을 병행하여야 원인감별에 도움이 된다. 저자들은 신생아 선천성 대사이상 질환 선별검사에서 갈락토스혈증이 의심되었던 생후 13일된 영아에 대하여 원인을 조사하던 중 복부초음파 검사에서 간 내 혈관내피종을 발견된 1례를 경험하였기에 이에 보고하는 바이다.
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 mail 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.
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