A Rare Case of Possible Crigler–Najjar Syndrome Type 2

Crigler-Najjar Syndrome (CNS) is a rare, congenital autosomal recessive disorder essentially impairing bilirubin metabolism. It is characterised by absence or decreased enzyme activity of UDP-glucuronosyltransferase due to mutation in UGT1A1 gene. This condition results in predominant indirect hyperbilirubinemia causing non haemolytic jaundice. CNS type 2 can manifest as prolonged jaundice in the neonatal period. Timely and precise diagnosis by enzyme analysis is important. Early diagnosis and adequate treatment can prevent the dangerous sequelae of kernicterus and irreversible brain damage and eventually, improve outcomes. Here, we report a rare case of possible Crigler Najjar Syndrome type 2.