Intraoperative diagnosis of gallbladder agenesis

Gallbladder agenesis (GA) is a rare congenital malformation of the biliary tract. While most patients are asymptomatic, approximately half exhibit symptoms resembling gallstone-related biliary pain. The initial diagnostic evaluation for suspected biliary pathology relies on hepatobiliary ultrasound, which has limited effectiveness in detecting malformations of the biliary tree. GA is frequently misdiagnosed as other hepatobiliary conditions, such as scleroatrophic gallbladder, resulting in avoidable and potentially risky surgical procedures. Despite significant advancements in imaging technology, many patients still undergo unnecessary surgery, during which the diagnosis is ultimately confirmed. We report the case of a young woman with a familial history of GA who presented with intermittent epigastric and right hypochondrial pain. Ultrasound findings suggested one of three possible diagnoses: porcelain gallbladder, multiple gallstones, or limy bile. Magnetic resonance cholangiopancreatography was inconclusive. During exploratory laparoscopy, the gallbladder fossa was thoroughly examined, and GA was confirmed. When imaging fails to visualize the gallbladder, performing laparoscopy before proceeding to laparotomy may help minimize surgical stress.