Intrahepatic Arterio-Venous Shunts in a Patient with Hypergalactosemia Detected by Neonatal Screening
Journal of the Korean Society of Neonatology
; : 87-92, 2004.
Article
em Ko
| WPRIM
| ID: wpr-172760
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Plasma
/
Valores de Referência
/
Difosfato de Uridina
/
Programas de Rastreamento
/
Ultrassonografia
/
Triagem Neonatal
/
Ultrassonografia Doppler em Cores
/
Leite
/
Galactoquinase
/
Galactose
Tipo de estudo:
Diagnostic_studies
/
Screening_studies
Limite:
Humans
/
Newborn
Idioma:
Ko
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2004
Tipo de documento:
Article