Friday, September 25, 2009

Zebra

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.

2 comments:

Alex said...

crigler-najjar?

Craig Chen said...

wow! and spelled correctly too.
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Zebra

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; msnbc.com.