SHM Converge Scientific Abstract ePoster Gallery-Crigler-Najjar Syndrome With Acute Choledocholithiasis

Pdf Summary

A 22-year-old woman with Crigler-Najjar syndrome type II, normally managed with intermittent phototherapy and nightly phenobarbital, presented 5 days after robotic laparoscopic cholecystectomy with recurrent epigastric pain radiating to the upper quadrants and flanks, nausea, anorexia, and one episode of vomiting. She appeared ill and jaundiced, with scleral icterus and abdominal tenderness. Laboratory testing showed elevated liver enzymes and bilirubin (AST 226 U/L, ALT 294 U/L, alkaline phosphatase 343 U/L, total bilirubin 12.8 mg/dL), above her baseline bilirubin of about 8 mg/dL. CT imaging showed no postoperative complication, but review of the intraoperative cholangiogram raised concern for a distal biliary defect. She underwent ERCP with sphincterotomy and removal of stone debris, after which cholangiogram showed no remaining filling defects. Her symptoms resolved and liver tests improved, with bilirubin returning to her personal baseline.<br /><br />The discussion emphasizes that Crigler-Najjar syndrome type II is a rare autosomal recessive disorder caused by reduced UGT1A1 activity, leading to chronic unconjugated hyperbilirubinemia. Phenobarbital can lower bilirubin by inducing residual enzyme activity, unlike in type I disease. Patients with Crigler-Najjar have a higher risk of pigment stone formation and biliary complications, which can be missed if bilirubin elevation is attributed only to the underlying liver disorder. The case underscores the importance of considering secondary obstruction, such as choledocholithiasis, in patients with chronic hyperbilirubinemia who develop new pain, lab changes, or imaging abnormalities.

Asset Subtitle

Courtney Hammerstone

Meta Tag

Author List Brandi Rudnitskas, Courtney Hammerstone, Henry Lam, Michael Villeneuve

Category Clinical Vignettes

Concept Choledocholithiasis

Concept Crigler-Najjar Syndrome Type II

Concept Hyperbilirubinemia

Concept UGT1A1

Concept Phenobarbital

Distinguished Non-Finalist

Presenter Organization Department of Emergency and Hospital Medicine, Lehigh Valley Health Network, Bethlehem, PA 18017

Presenting Author Courtney Hammerstone

Track Adult

Keywords

Crigler-Najjar syndrome type II

choledocholithiasis

hyperbilirubinemia

ERCP

sphincterotomy

bilirubin

phenobarbital

pigment stones

biliary obstruction

postoperative jaundice

Choledocholithiasis

Crigler-Najjar Syndrome Type II

Hyperbilirubinemia

UGT1A1

Phenobarbital