Case report of a gallbladder agenesis, a diagnostic challenge

INTRODUCTION AND IMPORTANCE: Agenesis of the gallbladder is an underdiagnosed entity. It can be an asymptomatic pathology, usually diagnosed incidentally as a finding on imaging techniques or in necropsies. There are symptomatic cases presenting as biliary colic too, attributed to cholecystitis or cholangitis, leading to exploratory surgeries. CASE PRESENTATION: We present a 14-year-old boy admitted to the outpatient Pediatric Gastroenterology Department with a history of daily abdominal pain for the past 2 months. Blood and fecal tests were normal. Coeliac disease, inflammatory intestinal diseases and Helicobacter pylori infection were ruled out. An abdominal US was informed of a hypodistensed gallbladder with no other findings. A CT scan was performed, which reported of an absent gallbladder. Upon these findings, a Magnetic Resonance Cholangiopancreatography (MRCP) was carried out, confirming the diagnosis of agenesis of the gallbladder. CLINICAL DISCUSSION: Its diagnosis still poses a challenge, as an absent gallbladder may not always be apparent by US, with the MRCP being the gold-standard test for examining the biliary tract. The prognosis is usually good, and the treatment of choice consists of antispasmodics when needed. There are few cases reported in literature, for this reason, our article discusses the most important aspects of agenesis of the gallbladder in order to suspect it, request the appropriate tests and saving unnecessary surgical interventions. CONCLUSION: Gallbladder agenesis is a rare entity that can lead to unnecessary diagnostic tests and interventions. The MRCP is the gold-standard test. Despite its benign nature, symptomatic treatment might be required in order to improve the patient's quality of life.