# Gallbladder Agenesis with Refractory Choledocholithiasis

**Authors:** Jamie Tjaden, Kevin Patel, Aziz Aadam

PMC · DOI: 10.1155/2015/747931 · 2015-06-22

## TL;DR

A rare case of gallbladder agenesis is described in a patient with difficult-to-treat bile duct stones.

## Contribution

This case highlights the increased risk of choledocholithiasis in patients with congenital gallbladder agenesis.

## Key findings

- A 63-year-old female with gallbladder agenesis presented with jaundice and elevated bilirubin levels.
- Multiple ERCP sessions were required to extract stones from the bile duct.
- Surgical exploration confirmed the absence of the gallbladder.

## 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.

## Linked entities

- **Diseases:** choledocholithiasis (MONDO:0006699)

## Full-text entities

- **Genes:** SLC17A5 (solute carrier family 17 member 5) [NCBI Gene 26503] {aka AST, ISSD, NSD, SD, SIALIN, SIASD}, CP (ceruloplasmin) [NCBI Gene 1356] {aka AB073614, CP-2}, BTG3 (BTG anti-proliferation factor 3) [NCBI Gene 10950] {aka ANA, ANA/BTG3, APRO4, TOB5, TOB55, TOFA}
- **Diseases:** stone (MESH:D007669), hepatitis C (MESH:D019698), pain (MESH:D010146), gallbladder disease (MESH:D005705), liver pathology (MESH:D017093), nausea (MESH:D009325), common bile duct stone (MESH:D042882), Choledocholithiasis (MESH:D042883), Jaundice (MESH:D007565), renal agenesis (MESH:C536482), imperforate anus (MESH:D001006), biliary dyskinesia (MESH:D001657), gonadal agenesis (MESH:D006059), liver fibrosis (MESH:D008103), splenomegaly (MESH:D013163), common bile duct (MESH:D003137), cholecystitis (MESH:D002764), congenital absence of the gallbladder (MESH:D005706), hepatitis (MESH:D056486), fibrosis (MESH:D005355), vomiting (MESH:D014839), renal dysgenesis (MESH:C537048), cirrhotic (MESH:D000094724), cleft lip (MESH:D002971), abdominal tenderness (MESH:D000007), chills (MESH:D023341), tetralogy of Fallot (MESH:D013771), cholelithiasis (MESH:D002769), intrahepatic bile duct dilatation (MESH:C531647), tracheoesophageal fistula (MESH:D014138), cystic duct obstruction (MESH:D018297), Aziz Aadam (MESH:C535613), abdominal pain (MESH:D015746), Congenital agenesis of the gallbladder (MESH:C562564), Hypertonic muscular retrograde contraction of the sphincter of Oddi (MESH:D046628), cleft palate (MESH:D002972), bile duct stones (MESH:D001649), Hepatitis B (MESH:D006509), malformations (MESH:C564254), postcholecystectomy syndrome (MESH:D017562), bile duct obstruction (MESH:D002779), ventricular septal defect (MESH:D006345)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

3 figures with captions in the complete paper: https://tomesphere.com/paper/PMC4491557/full.md

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Source: https://tomesphere.com/paper/PMC4491557