Gallbladder agenesis
Last revised by Dr Jeremy Jones ◉ on 19 Sep 2021
Citation, DOI & article data
Citation:
Mudgal, P., Jones, J. Gallbladder agenesis. Reference article, Radiopaedia.org. (accessed on 06 Jul 2022) https://doi.org/10.53347/rID-27544
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rID:
27544
Article created:
06 Feb 2014 by Dr Prashant Mudgal
Revisions:
20 times by 14 users - see full revision history
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Synonyms:
- GB agenesis
- Absent gallbladder
Agenesis of the gallbladder describes the rare congenital absence of the gallbladder.
On this page:
Epidemiology
- overall incidence is estimated <0.1% (range 0.04-0.1%)
- gender:
- reported 3:1 female predominance of symptomatic cases
- equivalent gender distribution in autopsy cases
Associations
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
Clinical presentation
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.
Clearly it is important to establish that the patient has not had their gallbladder removed surgically.
Pathology
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.
Treatment and prognosis
No treatment is needed if asymptomatic. However, patients symptomatic of biliary disease can be prescribed smooth muscle relaxants. Sphincterotomy can be performed if conservative treatment is ineffective 4.
Differential diagnosis
- post-cholecystectomy
- missed gallbladder on imaging/surgery
References
- 1. Meilstrup, Jon W.. Imaging Atlas of the Normal Gallbladder and Its Variants. (1994) ISBN: 0849347882
- 2. Ernest E. Lack. Pathology of the Pancreas, Gallbladder, Extrahepatic Biliary Tract, and Ampullary Region. (2003) ISBN: 9780199771745
- 3. Malde S. Gallbladder Agenesis Diagnosed Intra-Operatively: A Case Report. J Med Case Reports. 2010;4(1):1-5. doi:10.1186/1752-1947-4-285
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