Gallbladder Agenesis: A Case Report

Area of Science:

• Gastroenterology
• Congenital Anomalies
• Diagnostic Imaging

Background:

• Gallbladder agenesis (GA) is a rare congenital anomaly with an incidence of approximately 1 in 6500 live births.
• Most patients with GA are asymptomatic, but symptomatic cases often mimic biliary colic, complicating diagnosis.
• Standard diagnostic workups, including ultrasound (US), can be misleading, and advanced imaging like HIDA scans or ERCP may erroneously suggest cystic duct obstruction.

Observation:

• A 35-year-old female presented with chronic symptoms suggestive of biliary colic.
• Initial right upper quadrant ultrasound (US) was equivocal, reporting possible cholelithiasis.
• Laparoscopic surgery revealed the absence of the gallbladder, leading to an intraoperative diagnosis of GA.

Findings:

• Gallbladder agenesis can be difficult to diagnose preoperatively due to non-specific symptoms and inconclusive initial imaging.
• Advanced imaging techniques are crucial for accurate diagnosis when initial tests are ambiguous.
• Intraoperative diagnosis can lead to unnecessary surgical risks, including potential injury to surrounding structures.

Implications:

• Clinicians should consider gallbladder agenesis in the differential diagnosis for patients with biliary colic symptoms and inconclusive imaging.
• Magnetic resonance cholangiopancreatography (MRCP) is recommended as a definitive diagnostic tool for suspected GA when other modalities fail.
• Accurate preoperative diagnosis of GA can prevent potentially hazardous intraoperative exploration and complications.