Right upper abdominal quadrant pain: the correct diagnostic approach leads to an unusual finding

Gallbladder agenesis is a rare congenital condition that may be associated with other biliary and extrahepatic congenital condition. Although asymptomatic, almost 23% of patients manifest signs and symptoms suggestive of biliary colic such as right upper quadrant abdominal pain, nausea and vomiting, fatty food intolerance and dyspepsia. Ultrasound is the gold standard for gallbladder diseases but often it fails to diagnose gallbladder agenesis. Furthermore, advanced diagnostic studies such as endoscopic retrograde cholangio-pancreatography (ERCP) may report non-visualization of the gallbladder and erroneously lead providers to a diagnosis of cystic duct obstruction rather than Gallbladder agenesis. Therefore, clinicians should keep in mind this rare condition and imaging modalities such as cholangiopancreatography magnetic resonance (CPRM) should be performed when other tests are doubtful. Consequently, some patients suffering from gallbladder agenesis are only finally diagnosed intraoperatively. Surgery can be risky in these patients because unnecessary dissection could lead to injury of the biliary tree, hepatic vascularization, or bowel. We present a case of a 62-year-old woman with a 3-month history of biliary colic, normal laboratory findings, ultra-sound positive for sclero-atrophic gallbladder but with a cholangiopancreatography magnetic resonance diagnosing gallbladder agenesis. We also performed a brief review of the literature about diagnostic work-up and management of this uncommon condition.