Published online Apr 18, 2016. doi: 10.4254/wjh.v8.i11.530
Peer-review started: November 12, 2015
First decision: January 4, 2016
Revised: February 22, 2016
Accepted: March 9, 2016
Article in press: March 14, 2016
Published online: April 18, 2016
Processing time: 151 Days and 9.1 Hours
Crigler Najjar syndrome is associated with indirect hyperbilirubinemia due to a deficiency of enzyme Uridine Di Phospho Glucoronosyl Transferase (UDPGT). Presented here is a case of a female in the first trimester of pregnancy, who was diagnosed to have type 2 Crigler Najjar syndrome. We also discuss the management of this rare disease especially in pregnancy. Unconjugated bilirubin can cross the placental barrier causing neurological damage in the newborn. Patient was carefully monitored during pregnancy and treatment with phenobarbitone in low doses was adjusted such that the serum bilirubin levels were below 10 mg/dL. Crigler Najjar syndrome being rare needs to be diagnosed early in pregnancy to avoid adverse fetal outcomes. Phenobarbitone being an inducer of enzyme UDPGT is used as the first line of treatment and is not teratogenic in the low doses used. Treatment protocol followed was on the basis of previous reported cases and successful perinatal outcome was achieved.
Core tip: Crigler Najjar syndrome type 2 is a rare disorder causing indirect hyperbilirubinemia. In pregnancy placental crossing of unconjugated bilirubin can cause high bilirubin levels in the fetus with low Uridine Di Phospho Glucoronosyl Transferase activity causing permanent neurological impairment in the newborn. Hence timely diagnosis and treatment with low dose phenobarbitone is required.