14 dager gammel gutt med gulsott og apnéanfall

We describe an infant who was readmitted from home at 14 days of age with jaundice and a history of apnoea and episodes of retrocollis/opisthotonos. He had been only mildly jaundiced on discharge from the maternity clinic at 2 days of age. The total serum bilirubin (TSB) on admission was 542 µmol/L, and the infant was treated intensively with triple phototherapy and exchange transfusion. In contrast to what is recommended in Norwegian national guidelines for management of neonatal jaundice, the parents had apparently neither received oral nor written information about jaundice and its follow-up at the time of discharge from maternity. They therefore contacted their child healthcare centre when they had questions about jaundice, though the national guidelines specifically state that follow-up for neonatal jaundice during the first 2 weeks of life is the responsibility of the birth hospital. Inappropriate advice resulted in delayed referral, and the child has been diagnosed with chronic kernicterus, probably the first such case in Norway since national guidelines were formalised in 2006. Genetic work-up disclosed compound heterozygosity for Crigler-Najjar syndrome type I, to the best of our knowledge the first instance of this disorder ever to have been diagnosed in Norway. The incidence of kernicterus is Norway is much lower than in other industrialised countries. This is most likely due to national guidelines for management of neonatal jaundice, which place the responsibility for management and follow-up of jaundice with the birth hospital during the crucial first 2 weeks of life. This case report reminds us that tragedies may occur when guidelines are disregarded.