Agenesis of the gallbladder is a rare congenital anomaly.
- overall incidence is estimated <0.1% (range 0.04-0.1%)
- reported 3:1 female predominance of symptomatic cases
- equivalent gender distribution in autopsy cases
Most patients with agenesis of the gallbladder are asymptomatic. Although some patients may present with signs and symptoms of gallbladder disease and ultrasound may suggest findings consistent with chronic cholecystitis (shrunken gallbladder). Jaundice may be present with a dilated common bile duct. There is a high incidence of choledocholithiasis.
The exact etiology is unknown, however it is thought to result either from failure of the cystic bud to form or from lack of vacuolation. Several cases of familial gallbladder agenesis have also been reported, suggesting a hereditary basis of the anomaly.
Gallbladder agenesis is associated with several other anomalies:
- Klippel Feil syndrome
- malrotation of the gut
- horseshoe kidney
- aberrant left pulmonary artery
- anterior abdominal wall defects
- heterotaxy syndrome
- rectovaginal fistula 3
Misdiagnosis can lead to unnecessary operations. Common reasons for misdiagnosis include apparent biliary symptoms, false positive ultrasound reports and neglect of the diagnosis 4-6.