Abstract

Introduction Gallbladder agenesis (GA) is a rare congenital malformation, and majority are asymptomatic; however, symptomatic patients present with a clinical picture similar to biliary colic. Work up usually shows contracted gallbladder (GB) on ultrasound (US), and HIDA scan shows nonvisualization. Magnetic resonance cholangiopancreatography (MRCP) can be helpful in the diagnosis; however, the diagnosis without the latter can only be established intraoperatively. Management should be conservative treatment with antispasmodic drugs. Case Report. A 35-year-old female presented to the emergency department with nausea, vomiting, and worsening right upper quadrant (RUQ) abdominal pain. Vitals and laboratory values were unremarkable except for mild leukocytosis, and RUQ US reported “contracted GB, cholelithiasis, 4.2 mm wall thickness, and no ductal dilation.” Surgical consultation was prompted by the diagnosis of acute cholecystitis. The patient was transferred to the operating room for laparoscopic cholecystectomy; however, no GB was found, which was confirmed by intraoperative indocyanine green cholangiography. The procedure was aborted. Postoperatively, CT scan showed absent GB. A HIDA scan showed nonvisualization of the GB after 4 hours. Gastroenterology consultation was suggested to assess for peptic ulcer disease, stricture, or other etiology for her presenting symptoms, and the upper endoscopy showed gastritis. Upper GI with small bowel follow-through study showed mild delayed gastric emptying and contrast in the colon in 45 minutes. Conclusion When US imaging findings are equivocal for nonvisualization of GB in a patient with no known history of prior cholecystectomy, additional imaging is required considering the diagnosis of gallbladder agenesis. MRCP is the test of choice. Management is usually conservative with smooth muscle relaxants without the need for surgical operation.

Highlights

  • Gallbladder agenesis (GA) is a rare congenital malformation, and majority are asymptomatic; symptomatic patients present with a clinical picture similar to biliary colic

  • We present a 35-year-old obese female with a body mass index (BMI) of 41, with otherwise no significant past medical or surgical history, who presented to the emergency department (ED) with nausea, vomiting, and worsening right upper quadrant (RUQ) abdominal pain for a few days

  • It is necessary to perform another radiological investigation, such as Magnetic resonance cholangiopancreatography (MRCP), computed tomography (CT), endoscopic retrograde cholangiopancreatography (ERCP), and endoscopic ultrasound, if it is impossible to visualize the gallbladder under abdominal ultrasound, or if it is seen as shrunk with a description of chronic cholelithiasis [3, 1]

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Summary

Introduction

Gallbladder agenesis (GA) is a rare congenital malformation with an incidence of 10–65 per 100,000 [1, 2, 3]. It is more common in females with a 3 : 1 ratio [1]. Most cases are sporadic (around 70%), and there is very little literature on any familial links [1]. Symptomatic patients present with a clinical picture similar to biliary colic. Work up usually shows a contracted gallbladder on ultrasound, and a HIDA scan shows nonvisualization, which can lead to a false positive interpretation.

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