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.