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Gallbladder agenesis diagnosed during pregnancy- Case report and a literature review
Mihindukulasuriya Yvonne Presadini Pinto1, Shelbin Neelankavil2
1Department of General Surgery, Royal Perth Hospital, Perth, Western Australia, Australia.
Insights
Gallbladder agenesis (GA) is a rare congenital condition where the gallbladder fails to form. Early and accurate diagnosis is crucial to prevent misdiagnosis and unnecessary surgeries for biliary colic symptoms.
Area of Science:
- Gastroenterology
- Congenital Anomalies
- Diagnostic Imaging
Background:
- Gallbladder agenesis (GA) is a rare congenital anomaly resulting from the failure of gallbladder primordium formation.
- Patients may present with biliary colic, mimicking gallstones or cholecystitis.
Observation:
- A case of a 31-year-old female experiencing biliary colic during pregnancy is presented.
- Initial ultrasound scans failed to visualize the gallbladder.
- Magnetic Resonance Cholangiopancreatography (MRCP) confirmed the absence of the gallbladder.
Findings:
- Diagnosis of GA in adults can be challenging due to potential misinterpretation of ultrasound findings.
- High index of suspicion is needed for non-visualized, contracted, or shrunken gallbladders on ultrasound.
- Timely and appropriate investigations are essential for accurate diagnosis.
Implications:
- Misdiagnosis of GA can lead to unnecessary surgical interventions, such as laparoscopic cholecystectomy.
- Increased awareness and understanding of GA can prevent diagnostic dilemmas and inappropriate surgeries.
- Further investigation of suspected cases is prudent to confirm or exclude GA.
Introduction And Importance:
Gallbladder agenesis (GA) is a rare congenital anomaly. It results from failure of the formation of gallbladder primordium from the bile duct. This cohort of patients can present with symptoms of biliary colic and get misdiagnosed as cholecystitis or cholelithiasis.
Case Presentation:
Here we discuss a case of gallbladder agenesis presenting with symptoms of typical biliary colics in a 31 year old female patient during her second pregnancy. She underwent two ultrasound scans (USS) which couldn't visualise a gallbladder. She eventually had a magnetic resonance cholangiopancreatography (MRCP) which confirmed the absence of a gallbladder.
Clinical Discussion:
Diagnosis of gallbladder agenesis in adult life poses a diagnostic dilemma. This is partly due to misinterpretation of USS results. Still, some patients get diagnosed with this condition during attempted laparoscopic cholecystectomy. However, with a thorough understanding of the condition, unnecessary surgeries can be prevented.
Conclusion:
Misdiagnosis is possible and can lead to unnecessary surgeries. Appropriate and timely investigations can diagnose GA. One should have high index of suspicion when an USS result shows a non-visualisation of the gallbladder, contracted or a shrunken gallbladder. It is prudent to further investigate this cohort of patients to rule out gallbladder agenesis.
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