| Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening. |
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Joo Hee Hong, Joo Pil Um, Byung Ho Cha, Baek Keun Lim, Jong Soo Kim |
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Department of Pediatrics, Wonju College of Medicine, Yonsei University, Wonju, Korea. limbk@wonju.ac.kr |
| 대사 선별 검사상 고갈락토오스혈증을 보인 간내 동정맥 단락 1례 |
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| Abstract |
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We report a case of 15 days old newborn presenting with hypergalactosemia detected by newborn screening who had intrahepatic arterio-venous shunts with multiple pin-head sized cutaneous hemangiomas. Plasma level of galactose was elevated to 11.3 mg/dL at age of 7 days, but the activity of galactose-metabolizing enzymes including galactose-1- phosphate uridyltransferase, galactokinase, and uridine diphosphate galactose-4-epimerase were all normal.
Intrahepatic arterio-venous shunts were diagnosed by abdominal ultrasonography with color doppler ultrasonography and abdominal computed tomography. At age of 3 months, the plasma level of galactose further elevated to 14.73 mg/dL, at which time lactose-free cows milk formula was started. At age of 6 months, the plasma level of galactose decreased to within normal range with disappearance of previously noted multiple cutaneous hemangiomas. In hypergalactosemia of the newborn, the intrahepatic shunts should be considered as a possible cause, once hereditary enzyme deficiencies have been ruled out. |
| Key Words:
Neonatal screening; Hypergalactosemia; Intrahepatic arterio-venous shunts |
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