Gallbladder Agenesis Diagnosed Intra-Operatively: A Case Report
Gallbladder Agenesis Diagnosed Intra-Operatively: A Case Report
Introduction: Agenesis of the gallbladder is a rare congenital anomaly occurring in 13 to 65 people of a population of 100,000. The rarity of the condition, combined with clinical and radiologic features that are indistinguishable from those of more common biliary conditions, means that it is rarely diagnosed preoperatively, and patients undergo unnecessary operative intervention.
Case presentation: This case report describes the case of a 79-year-old symptomatic Caucasian man who underwent laparoscopic cholecystectomy for suspected choledocholithiasis despite imaging studies raising suspicion of gallbladder agenesis. Intra-operatively, the diagnosis of gallbladder agenesis and associated common bile duct stones was made.
Conclusion: The preoperative diagnosis of this rare condition is difficult to make. However, with advances in biliary tract imaging and with heightened awareness of this anomaly, fewer patients will need to undergo unnecessary operative intervention. The authors review the different imaging modalities available to help diagnose this condition and highlight the importance of being aware of this rare anomaly to avoid an operation that carries a high risk of iatrogenic injury.
Isolated agenesis of the gallbladder is a rare congenital anomaly that results from failure of the cystic bud to develop in utero. Since its first description by Lemery in 1701, a number of cases have been published, with a reported incidence of 0.01% to 0.06%. Patients are usually asymptomatic, and the diagnosis is commonly made as an incidental finding during abdominal surgery or at autopsy. It is estimated that 25% to 50% of patients will develop common duct stones at some point, and 23% will eventually become symptomatic, usually in the fourth or fifth decade. Symptoms mimic those of common biliary conditions such as cholecystitis, and routine investigations fail to distinguish between gallbladder agenesis and other conditions such as cholecystitis with cystic duct obstruction or an atrophic gallbladder. Combined with the rarity of the condition, the diagnosis is infrequently made preoperatively, and so the patient undergoes unnecessary operative intervention. Intraoperatively, the risk of iatrogenic injury is higher, and so the associated morbidity of the procedure is greater.
Despite recent advances in biliary tract imaging, the pre-operative diagnosis of gallbladder agenesis remains elusive. Here this case report describes a case of symptomatic gallbladder agenesis with common duct stones diagnosed at laparotomy and discuss the utility of the various imaging modalities that are currently available to attempt to diagnose this condition.
Abstract and Introduction
Abstract
Introduction: Agenesis of the gallbladder is a rare congenital anomaly occurring in 13 to 65 people of a population of 100,000. The rarity of the condition, combined with clinical and radiologic features that are indistinguishable from those of more common biliary conditions, means that it is rarely diagnosed preoperatively, and patients undergo unnecessary operative intervention.
Case presentation: This case report describes the case of a 79-year-old symptomatic Caucasian man who underwent laparoscopic cholecystectomy for suspected choledocholithiasis despite imaging studies raising suspicion of gallbladder agenesis. Intra-operatively, the diagnosis of gallbladder agenesis and associated common bile duct stones was made.
Conclusion: The preoperative diagnosis of this rare condition is difficult to make. However, with advances in biliary tract imaging and with heightened awareness of this anomaly, fewer patients will need to undergo unnecessary operative intervention. The authors review the different imaging modalities available to help diagnose this condition and highlight the importance of being aware of this rare anomaly to avoid an operation that carries a high risk of iatrogenic injury.
Introduction
Isolated agenesis of the gallbladder is a rare congenital anomaly that results from failure of the cystic bud to develop in utero. Since its first description by Lemery in 1701, a number of cases have been published, with a reported incidence of 0.01% to 0.06%. Patients are usually asymptomatic, and the diagnosis is commonly made as an incidental finding during abdominal surgery or at autopsy. It is estimated that 25% to 50% of patients will develop common duct stones at some point, and 23% will eventually become symptomatic, usually in the fourth or fifth decade. Symptoms mimic those of common biliary conditions such as cholecystitis, and routine investigations fail to distinguish between gallbladder agenesis and other conditions such as cholecystitis with cystic duct obstruction or an atrophic gallbladder. Combined with the rarity of the condition, the diagnosis is infrequently made preoperatively, and so the patient undergoes unnecessary operative intervention. Intraoperatively, the risk of iatrogenic injury is higher, and so the associated morbidity of the procedure is greater.
Despite recent advances in biliary tract imaging, the pre-operative diagnosis of gallbladder agenesis remains elusive. Here this case report describes a case of symptomatic gallbladder agenesis with common duct stones diagnosed at laparotomy and discuss the utility of the various imaging modalities that are currently available to attempt to diagnose this condition.