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Agenesis of the gallbladder.
Hamed Kabiri1, Orville H Domingo, Chris D Tzarnas
1Department of Surgery, Mercy Catholic Medical Center, Philadelphia, Pennsylvania, USA. hamedkabiri@yahoo.com
Current Surgery
|March 8, 2006
Summary
Gallbladder agenesis is a rare congenital condition. This study presents a unique case of gallbladder agenesis with a large bile duct stone, highlighting atypical presentations of this rare disease.
Area of Science:
- Gastroenterology and Hepatology
- Congenital Abnormalities
- Biliary System Diseases
Background:
- Gallbladder agenesis is a rare congenital condition affecting 13-65 per 100,000 individuals.
- It likely results from failed gallbladder bud development in utero.
- Familial tendencies suggest genetic factors and potential screening benefits.
Observation:
- Choledocholithiasis (bile duct stones) is uncommon in gallbladder agenesis.
- Typically, stones are small and patients present with jaundice.
- This report details a 23-year-old patient with gallbladder agenesis and a large choledochal calculus, notably without jaundice.
Findings:
- Presents a rare case of gallbladder agenesis with a large, symptomatic choledochal calculus.
- Challenges the typical presentation of choledocholithiasis in agenesis patients.
- Includes a literature review on gallbladder agenesis and associated biliary calculi.
Implications:
- Suggests that gallbladder agenesis can present atypically, even with large bile duct stones.
- Highlights the importance of considering gallbladder agenesis in differential diagnoses for biliary obstruction.
- Emphasizes the need for thorough investigation in patients with congenital biliary anomalies.