Decoding the mystery of sky high bililurbin levels in a child with Hereditary Spherocytosis- The Co-existence of Crigler Najjar Syndrome Type 2

Abstract

Hereditary Spherocytosis (HS) is the most prevalent cause of hemolytic anemia in children due to red cell membrane defect. Crigler-Najjar syndrome type II, is an inherited disorder of bilirubin metabolism due to defect in UDP-glucuronosyltransferase (UGT1A1) gene. Cases with co-existence of HS and UGT1A1 deficiency are rarely reported in literature. Here, we report a child with HS who presented with cholelithiasis at an early age and developed extremely high levels of bilirubin without any significant hemolysis or biliary tract obstruction. He was worked up and genetic sequencing (whole exome analysis) confirmed the co-existence of type II Crigler–Najjar syndrome along with Hereditary Spherocytosis. Child underwent cholecystectomy and splenectomy. Establishing the complete diagnosis helped in pre-operative stabilization and uneventful post-operative period.