Resumo

CIFUENTES-CIFUENTES, Mery Yolanda; ESTRADA-VIZCAINO, Antonio  e  ROMERO C, Rosa. Neonatal jaundice caused by galactosemia. rev.fac.med. [online]. 2014, vol.62, n.2, pp.287-292. ISSN 0120-0011.  https://doi.org/10.15446/revfacmed.v62n2.45420.

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.

Palavras-chave : Jaundice; Infant; Newborn; Cataract; Galactosemias.

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