Gallbladder Agenesis Mimicking Chronic Cholecystitis in a Young Woman

Abstract

Gallbladder agenesis is a rare anatomic congenital abnormality caused by the cystic bud failing to develop into the gallbladder. Gallbladder agenesis has a variable presentation, with 50% of patients presenting with symptoms mimicking biliary colic and 35% being incidentally discovered during surgery or autopsy, while another 15% can present with fatal fetal anomalies.In this article, we present a case of gallbladder agenesis in a young woman who presented with biliary-coliclike symptoms suggesting cholecystitis. The gallbladder was not well visualized on ultrasonography, simulating chronic cholecystitis due to shrunken or contracted bladder. Further imaging with computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) helped in the successful diagnosis of gallbladder agenesis and helped prevent unnecessary surgical intervention.Due to the lack of clinical suspicion diagnosing gallbladder agenesis preoperatively is still rare. Persistent symptoms are often associated with biliary colic pain leading to surgery. Conservative management consists of using antispasmodic medications. MRCP may be required to rule out gallbladder agenesis and avoid unnecessary surgery.Gallbladder agenesis can present with symptoms similar to cholecystitis. If the gallbladder is not visualized well on the ultrasound, an additional radiological examination is required. Clinicians' understanding of the condition helps to accurately diagnose the condition preoperatively using the appropriate investigations, thereby minimizing the operative risk to the patient.

Preoperative Diagnosis of Gallbladder Agenesis: A Case Report

“…Type Ib is the most prevalent [ 5 , 6 ]. Symptoms classically present as usual biliary symptoms (right upper quadrant pain, dyspepsia, and fatty food intolerance), as in our case and others reported [ 1 - 4 , 10 ]. Due to an extremely low incidence of 0.01%-0.075%, GA is often overlooked or misdiagnosed [ 3 , 8 , 11 ].…”

Agenesia de la vesícula biliar: una serie de casos multicéntrica y revisión de la literatura

“…Es más frecuente en mujeres (3:1) y se diagnostica durante la tercera década, frecuentemente durante una colecistectomía. 3,4 E l d i a g n ó s t i c o p u e d e r e a l i z a r s e c o n ecografías, pero los remanentes fibróticos de la vesícula agenésica pueden interpretarse como escleroatrofia en pacientes con colecistitis recurrente. En casos inciertos, la resonancia magnética o la ecoendoscopia pueden contribuir en el diagnóstico.…”

A Unique Case of Gallbladder Agenesis and Cholangiocarcinoma

“…There are no known familial links; however, GA is associated with other developmental conditions such as Klippel-Feil syndrome, malrotation of the gut, horseshoe kidney, aberrant left pulmonary artery, anterior abdominal wall defects, heterotaxy syndrome, polysplenia, and asplenia syndrome [2]. Typically, these patients die from congenital defects other than their GA [1][2][3]. GA is also associated with congenital genetic syndromes, such as trisomy-18 [4].…”

“…GA is also associated with congenital genetic syndromes, such as trisomy-18 [4]. Those who are symptomatic often present with biliary colic in their second or third decade of life and are diagnosed intraoperatively, as the diagnosis is originally mistaken for cholelithiasis or cholecystitis [1][2][3]. Cholangiocarcinoma (CCA) is a cancer of the biliary tract, arising from conditions causing chronic inflammation [4][5][6].…”

“…Congenital abnormalities of the gallbladder can be caused by hypoplasia or agenesis [ 1 , 2 ]. Congenital gallbladder agenesis (GA) was first reported in 1701 and is due to failure of the cystic duct and gallbladder to bud off in the fourth or fifth week of fetal development [ 1 , 3 ].…”