Agenesis of the Gallbladder: A Phantom Menace

Abstract

Objective: Gallbladder agenesis (GBA) is a rare congenital disorder with an estimated incidence of about 0.06%. Despite the absence of a gallbladder, these patients may present with symptoms mimicking biliary colic or cholecystitis. Ultrasound findings and liver function tests are often misleading. Some of these patients undergo laparoscopy without successful identification of gallbladder and paradoxically report symptom relief.

Case: We present a case of GBA in a 54 year-old female, who presented with right-sided abdominal pain. The clinical history and examination were consistent with biliary colic. Initial investigations, including liver function tests, upper endoscopy and ultrasound did not demonstrate upper gastrointestinal pathology and did not clearly identify a gallbladder. Subsequent HIDA scan and CT of the abdomen did not visualize a gallbladder. An MRCP confirmed gallbladder agenesis. The patient was managed conservatively and was symptom free on discharge and follow-up.

Discussion: We wish to highlight four learning points: 1. Patients with gallbladder agenesis often present with biliary symptoms. 2. Ultrasound and CT of the liver may not always identify this anomaly. 3. MRCP is the gold standard for making a diagnosis of gall- bladder agenesis. 4. Surgeons must have a high index of suspicion of GBA when the gallbladder is poorly visualized or not identified on ultrasound.