A Case of Infantile Hepatic Hemangioendothelioma Incidentally Detected during the Evaluation of Galactosemia
Journal of the Korean Society of Neonatology
; : 136-140, 2010.
Article
em Ko
| WPRIM
| ID: wpr-223414
Biblioteca responsável:
WPRO
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 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.
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Texto completo:
1
Índice:
WPRIM
Assunto principal:
Veia Porta
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Valores de Referência
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Difosfato de Uridina
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Imageamento por Ressonância Magnética
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Alfa-Fetoproteínas
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Triagem Neonatal
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Malformações Vasculares
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Galactoquinase
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Galactose
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Galactosemias
Limite:
Humans
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Infant
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Male
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Newborn
Idioma:
Ko
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2010
Tipo de documento:
Article