Rare Neonatal Case Report of Persistent Neonatal Indirect Hyperbilirubinemia – Crigler-Najjar Syndrome A "One in a Million" in Georgia

Abstract

This case report presents the rare clinical case of a jaundiced neonate with persistent indirect hyperbilirubinemia, highlighting the diagnostic and management challenges posed by Crigler-Najjar Syndrome. Crigler-Najjar syndrome is an uncommon inherited disorder transmitted autosomal recessive, resulting in high infant bilirubin levels. The condition is mainly characterized by the absence or diminished activity of UDP-glucuronosyltransferase (UGT), an enzyme crucial for transforming unconjugated bilirubin into its conjugated form in the liver. The lack of this enzyme plays a significant role in causing jaundice in newborns that is not associated with hemolysis. The report aims to raise awareness among physicians about this infrequent but life- threatening condition, which necessitates meticulous medical management and underscores the importance of proper and timely interventions and supervision. Management of Crigler-Najjar syndrome generally requires a collaborative approach from a diverse team of healthcare specialists. The pediatrician or neonatologist is crucial for the initial diagnosis and for regularly tracking the child's progress and overall health.