Gallbladder Agenesis with Refractory Choledocholithiasis

Abstract

Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009). In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bilirubin and alkaline phosphatase were found to be markedly elevated. Upper endoscopic ultrasound (EUS) revealed choledocholithiasis, and the patient required multiple endoscopic retrograde cholangiopancreatography (ERCP) sessions before successful extraction of all stones. Subsequent surgical exploration revealed congenital agenesis of the gallbladder. Although this is a rare finding, patients with agenesis of the gallbladder are at increased risk of developing de novo choledocholithiasis which may be challenging to extract.

Gallbladder Agenesis in 17 Dogs: 2006–2016

“…It is considered to be an embryological disorder and possibly hereditary . However, most information about GBA in humans arises from isolated case reports and the etiology remains unclear . Guidelines have been established for the diagnosis of GBA .…”

“…2,3 However, most information about GBA in humans arises from isolated case reports and the etiology remains unclear. [2][3][4][5][6][7][8][9][10][11] Guidelines have been established for the diagnosis of GBA. 4,12 The recommendation in humans is that GBA should be diagnosed preoperatively to avoid unnecessary surgical exploration and to minimize the risk of iatrogenic injury.…”

“…4,9,12 In humans, symptoms associated with GBA are suggestive of biliary colic, and as a result of a general lack of awareness of GBA, patients have been misdiagnosed with cholecystitis and cystic duct obstruction or with a scleroatrophic gallbladder, resulting in unnecessary surgical intervention. 4,7 Diagnostic computed tomography (CT), magnetic resonance cholangiography, or endoscopic retrograde cholangiopancreatography is recommended when a gallbladder is not found on abdominal ultrasonography. 4,12 Clinical and prognostic information about GBA in dogs is sparse.…”

“…The recommendation in humans is that GBA should be diagnosed preoperatively to avoid unnecessary surgical exploration and to minimize the risk of iatrogenic injury . In humans, symptoms associated with GBA are suggestive of biliary colic, and as a result of a general lack of awareness of GBA, patients have been misdiagnosed with cholecystitis and cystic duct obstruction or with a scleroatrophic gallbladder, resulting in unnecessary surgical intervention . Diagnostic computed tomography (CT), magnetic resonance cholangiography, or endoscopic retrograde cholangiopancreatography is recommended when a gallbladder is not found on abdominal ultrasonography …”

Agenesis of the gallbladder and choledocholithiasis: Case report.

“…primary bile duct (choledocholithiasis) (Figure 3). However, in the presence of agenesis, ERCP has been reported as not effective due, in part, to dysfunction of the sphincter of Oddi, so many patients need surgery and lithotripsy, as happened in this case (15).…”