Keywords
Crigler-Najjar syndrome, Coeliac disease, Phenobarbital, unconjugated bilirubin, hyperbilirubinemia
Introduction :
Crigler-Najjar syndrome (CNS) is a rare genetic disorder affecting 0.6-1.0 per million live births. CNS is an inborn abnormality of bilirubin metabolism characterized by the absence or decreased activity of an enzyme UDP-glucuronosyltransferase required for glucuronidation of unconjugated bilirubin in the liver. Crigler-Najjar syndrome is divided into two forms based on the severity of the disease. These forms are Criggler-Najjar type 1 and Crigler-Najjar type 2. CN type 1 is linked with severe jaundice and neurologic impairment due to bilirubin encephalopathy which leads to permanent neurologic sequelae. CN type 2 is linked with lower serum bilirubin concentration and the patients who are affected survive into adulthood without neurologic impairment. In the past, there have been rare associations of CNS with other manifested conditions such as cephalhematoma, bowel perforation, and peritonitis1,2 . However, no such association can be seen in the current literature in relation to celiac disease. Therefore, in light of the clinical relevance, the authors have presented a rare finding of CNS type II in a 14-year-old boy with celiac disease and a literature review on the management and outcome of CNS among the pediatric population.