Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening
Journal of the Korean Society of Neonatology
;
: 87-92, 2004.
Article
Dans Coréen
| WPRIM
| ID: wpr-172760
ABSTRACT
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Plasma sanguin
/
Valeurs de référence
/
Uridine diphosphate
/
Dépistage de masse
/
Échographie
/
Dépistage néonatal
/
Échographie-doppler couleur
/
Lait
/
Galactokinase
/
Galactose
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Humains
/
Nouveau-né
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
2004
Type:
Article
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