Neonatal presentation of a rare metabolic liver disease.
Artigo
em Inglês
| IMSEAR
| ID: sea-124176
ABSTRACT
Tyrosinemia is a rare paediatric metabolic liver disorder. A 15-days-old neonate born of a third degree consanguineous marriage presented with jaundice due to tyrosinemia, which progressed to fatal hepatic encephalopathy. The diagnosis was based on very high alpha-fetoprotein level, with urine aminoacidogram revealing tyrosine spot and liver biopsy depicting cirrhosis. Very early neonatal presentation and rapid progression were the unusual features of this case.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Humanos
/
Masculino
/
Recém-Nascido
/
Tirosinemias
Idioma:
Inglês
Ano de publicação:
2008
Tipo de documento:
Artigo
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