Friday, September 25, 2009


The newborn shown above is being treated for a rare genetic disorder. He was the product of a normal spontaneous vaginal delivery at 38 weeks to a 30 year old G1P1 mother with no medical problems. He presented at 2 days of life with jaundice. Blood tests showed a total bilirubin of 25mg/dL (direct bilirubin of 0.1). Liver function tests were all within normal limits. Coombs test is negative. Stool color is normal. In social/family history, you learn that there's consanguinity in the parents.

Challenge: Prior to the treatment shown above, nearly all infants with this disease died of kernicterus. What is the disease?

Image shown under fair use.


Alex said...


Craig Chen said...

wow! and spelled correctly too.

This is Crigler-Najjar syndrome or congenital nonhemolytic jaundice with glucuronosyltransferase deficiency, a rare autosomal recessive disorder. Type I, the more severe form, is described here; in Type II disease, bilirubin is lower and patients survive into adulthood without neurologic impairment.

Sources: UpToDate;