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Gallbladder Agenesis: A Case Report.

Michelle C Salazar1, Kirstyn E Brownson1, Geoffrey S Nadzam2

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|September 28, 2018
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Gallbladder agenesis (GA), a rare congenital condition, often presents with biliary colic symptoms. Early diagnosis is challenging, but magnetic resonance cholangiopancreatography (MRCP) can confirm GA when other tests are inconclusive.

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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.