Gallbladder agenesis
Agenesis of the gallbladder describes the rare congenital absence of the gallbladder.
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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
Related Radiopaedia articles
Anatomy: Abdominopelvic
- skeleton of the abdomen and pelvis
- muscles of the abdomen and pelvis
- spaces of the abdomen and pelvis
- anterior abdominal wall
- posterior abdominal wall
- abdominal cavity
- pelvic cavity
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- gastrointestinal tract
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endocrine system
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adrenal gland
- adrenal vessels
- chromaffin cells
- variants
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adrenal gland
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urinary system
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kidney
- renal pelvis
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variants
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kidney
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female reproductive system
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- broad ligament (mnemonic)
- variant anatomy
- embryology
- blood supply of the abdomen and pelvis
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abdominal aorta
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internal iliac artery (mnemonic)
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- variant anatomy
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abdominal aorta
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- portal-systemic venous collateral pathways
- watershed areas
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- innervation of the abdomen and pelvis
- lumbar plexus
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sacral plexus
- lumbosacral trunk
- sciatic nerve
- superior gluteal nerve
- inferior gluteal nerve
- nerve to piriformis
- perforating cutaneous nerve
- posterior femoral cutaneous nerve
- parasympathetic pelvic splanchnic nerves
- pudendal nerve
- nerve to quadratus femoris and inferior gemellus muscles
- nerve to internal obturator and superior gemellus muscles
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