Abstract
Jaundice is a commonly occurring problem in hospitals' neonatal units. This report describes a newborn with hypefbilirrubinaemia; the clinical picture was initially dominated by the unconjugated bilirubin fraction and later by anaemia, hepatomegaly, increased conjugated bilirubin fraction, impaired liver function, renal tubular dysfunction, cataracts and injury to CNS white matter. Various causes of direct hyperbilirrubinaemia in the newborn were ruled out. Thin-layer chromatography revealed urine-reducing substances (i.e. galactose). A marked reduction in galactose uridyl transferaseactivity was documented, thereby confirming a diagnosis of galactosaemia. Breastfeedingwas discontinued and soy milk started which led to the symptoms becoming resolved.
Highlights
Neonatal jaundice caused by galactosemiaMery Yolanda Cifuentes-Cifuentes1,2 Antonio Estrada-Vizcaíno2 Rosa Romero C3 Recibido: 18/04/2013 / Aceptado: 27/05/2014.
La ictericia es un problema muy frecuente en las unidades de recién nacidos.
En este documento se presenta el caso de un neonato que cursó con hiperbilirrubinemia, inicialmente con predominio de la bilirrubina indirecta y posteriormente con anemia, hepatomegalia, aumento de la bilirrubina directa, alteración de la función hepática, disfunción tubular renal, cataratas y lesiones en la sustancia blanca del SNC.
Summary
Mery Yolanda Cifuentes-Cifuentes1,2 Antonio Estrada-Vizcaíno2 Rosa Romero C3 Recibido: 18/04/2013 / Aceptado: 27/05/2014. La ictericia es un problema muy frecuente en las unidades de recién nacidos. En este documento se presenta el caso de un neonato que cursó con hiperbilirrubinemia, inicialmente con predominio de la bilirrubina indirecta y posteriormente con anemia, hepatomegalia, aumento de la bilirrubina directa, alteración de la función hepática, disfunción tubular renal, cataratas y lesiones en la sustancia blanca del SNC. Palabras clave: Ictericia, Recién Nacido, Catarata, Galactosemias (DeCS). Thin-layer chromatography revealed urinereducing substances (i.e. galactose). A marked reduction in galactose uridyl transferaseactivity was documented, thereby confirming a diagnosis of galactosaemia.
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