Crigler-Najjar Syndrome

Causes

Crigler–Najjar syndrome is a rare inherited disorder affecting the metabolism of bilirubin. The disorder results in a form of nonhemolytic jaundice.

Symptoms and Signs

• Patients with autosomal recessive type I (complete) disease have severe unconjugated hyperbilirubinemia typically beginning shortly after birth. They usually die of kernicterus by age 1 year but may survive into adulthood. Treatment may include phototherapy and liver transplantation.
• Patients with autosomal recessive type II (partial) disease (which has variable penetrance) often have less severe unconjugated hyperbilirubinemia and usually live into adulthood without neurologic damage. Phenobarbital may be effective.