Severe Hyperbilirubinemia in a 6-year-old Girl With a Combined Disorder of Hereditary Spherocytosis and Constitutional Jaundice

Abstract

Constitutional jaundice (CJ) is characterized by mild and chronic unconjugated hyperbilirubinemia with intermittent jaundice in the absence of liver and hemolytic disease. We encountered a case of severe hyperbilirubinemia and prolonged jaundice after the release of common bile duct (CBD) obstruction, splenectomy, and cholecystectomy in a child with a combination of hereditary spherocytosis (HS) and CJ. Case: At 3 years of age, a girl was diagnosed as having HS. She had abdominal pain periodically, and biliary sludge was detected by ultrasound. At 6 years of age, she developed severe jaundice and frequently had stomachaches. The imaging showed splenomegaly and CBD obstruction by biliary sludge. The CBD obstruction was released by endoscopic nasobiliary drainage, but her jaundice continued. Then, laparoscopic splenectomy and cholecystectomy were performed. Postoperatively, intraperitoneal bleeding occurred and required laparotomy for hemostasis. Prior to reoperation, severe coagulopathy was found. Later, her jaundice gradually improved, but still remained. On further examination, mutations of UGT1A1 were found. We diagnosed that her prolonged jaundice was due to CJ. When a patient with HS develops biliary sludge, gallstones, or prolonged jaundice in childhood, there is a possibility that it develops in combination with CJ.