CriglerNajjar Syndrome

A patient with type Icongenital nonhemolytic jaundice (type ICrigler-Najjar syndrome (CNJ)), who first developed overt neurologic signs at age 18, is reported. Studies with isotopic bilirubin, performed both when she was well and after the onset of brain damage, demonstrated normal hepatic bilirubin uptake and storage capacity, and normal bilirubin turnover (3.0 mg/kg/24hr). As a result of a virtual absence of conjugation, net bilirubin clearance was reduced to 0.0075 ml/min/kg, which is approximately 1 of normal (0.65 ± 0.18 ml/min/kg). Therapy with glutethimide, phenobarbital, blue light, and oral agar were all ineffective in reducing the concentration of unconjugated bilirubin in plasma or accelerating radiobilirubin disappearance.