J.H.P. Wilson, M. Sinaasappel, F.K. Lotgering

Erasmus MC, Rotterdam, The Netherlands


Background: With intensive phototherapy patients with Crigler-Najjar syndrome (CNS) can survive to become jaundiced but otherwise healthy adults. A major concern is that if pregnancy occurs, unconjugated bilirubin, which can cross the placenta, might cause bilirubin encephalopathy in the foetus.

Case Report: A woman with CNS 2, compound heterozygote for the mutations 15R and S190F in the UDT1A1 gene, had bilirubin levels between 200 and 250 μmol/l with 1-2 hours of phototherapy (10 lamps of 100 W) per day. She does not take phenobarbital because of side effects. At 27 years she became pregnant. At 9 wks her serum bilirubin was 234 μmol/l and albumin 43 g/l. The phototherapy was increased to 3 hours per day resulting in bilirubin levels between 165 and 205 μmol/l. Her serum albumin dropped to 34 g/l. Because of mild proteinuria delivery was induced and forceps-assisted at 39 weeks. At delivery her bilirubin was 239 μmol/l. The healthy boy weighed 3440 g and had an APGAR score of 8 at 1 min. and 9 at 5 min. Cord blood bilirubin levels were the same as the mother's. Her bilirubin rose after delivery to 278 μmol/l and her albumin dropped to 30 g/l. Phototherapy was given to the child for three days. Two years later she gave birth to a healthy girl at 39 weeks, weighing 3150 g with an APGAR of 10 at 5 min. Bilirubin and albumin levels were similar to the first pregnancy. Both children have developed normally without neurological abnormalities.

Conclusions: With regular monitoring and adjustment of treatment to keep bilirubin levels below 200 μmol/l, pregnancy without foetal damage is possible in patients with Crigler-Najjar syndrome.