Gallbladder Dysgenesis Requiring Reoperation for Cholecystectomy: A Case Report

Special Article - Surgical Case Reports

Austin J Surg. 2015;2(3): 1056.

Gallbladder Dysgenesis Requiring Reoperation for Cholecystectomy: A Case Report

Stephen Serio* and Maher Ghanem

Department of Surgery, Central Michigan University College of Medicine, USA

*Corresponding author: Stephen Serio, Department of Surgery, Central Michigan University College of Medicine, 901 S. Washington, Suite 1, Saginaw, MI 48603, USA

Received: March 09, 2015; Accepted: March 23, 2015; Published: March 26, 2015


In this case report, we describe a unique case of gallbladder dysgenesis fraught with diagnostic dilemma and operative misadventure. We include a brief review of the literature regarding the pathophysiologic and embryologic etiology, as well as the incidence of this rare finding.


Anatomic variation is a common and well-studied aspect of hepatobiliary surgery. Frequently, anomalies involving the biliary tree conformation and vascular supply are witnessed by hepatobiliary and general surgeons at operation, however, embryologic anomalies of the gallbladder are much less frequently encountered.

Embryologic irregularity of the gallbladder is a rare finding, occurring in less than 0.1% of the population [1]. The incidence of congenital absence of the gallbladder is even less frequent, occurring in about 0.03% [2]. These findings are rarely described in the literature, occasionally reported in reviews of necropsy and radiographic case studies. Less commonly, diagnosis is made intraoperatively; in the case surgery is under taken in light of false positive ultrasonography exams [3]. It is difficult to predict incidence from these limited reports.

Congenital absence and dysgenesis of the gallbladder was found to be asymptomatic in many adult cases, occasionally diagnosed at surgery for misinterpreted or misdiagnosed biliary complaints [6]. It appears as though these malformations occur randomly in the population, typically without a familial predisposition. This seems to indicate that these phenotypic changes are the result of sporadic mutations. Retrospectively, gallbladder agenesis is identified as an isolated defect in 70-82% of those affected. Of these, only 55.6% are found to be symptomatic [7]. Of note, agenesis has also been identified, incidentally, in conjunction with midgut volvulus and cholangiocarcinoma [7,8].

In autopsy studies, pediatric populations are more likely to have associated anatomic defects, which often limit lifespan. These include malformations most commonly of the genitourinary, reproductive, cardiovascular and gastrointestinal tract. Additionally, though less frequently, anomalies were identified in the respiratory tract and skeletal system [2]. Congenitally, multiple syndromes have been associated with agenesis of the gallbladder. These include cerebrotendinous xanthomatosis and Opitz’s syndrome, among others [9]. In addition to these generalized systemic conditions, hepatobiliary abnormalities, such as biliary atresia and congenital dysgenesis of the liver are also common concomitant findings. These conditions are sometimes not identified until later in life when the patient becomes symptomatic in their early adult years [10].

In this case report, we describe a unique case of gallbladder dysgenesis. Frequently, these variations are found posthumously, however our report examines the management and surgical treatment of gallbladder dysgenesis. At initial operation, what was presumed to be gallbladder agenesis, congenital absence of the gallbladder, was revealed by further symptomatic episodes and radiographic workup, and later at reoperation, to be dysgenesis of gallbladder formation, thus resulting in a small contracted gallbladder bud deep in the hepatic portal recess.

Case Report

A forty-one-year-old female was evaluated in our clinic with complaints of right upper quadrant and epigastric abdominal pain, worse in the postprandial setting and associated with some nausea and dyspepsia. She had no associated symptoms of fevers or chills. Her vital signs were unremarkable and physical exam reveals mild tenderness to deep palpation at the right sub costal margin.

The patient had previously undergone work up for similar complaints about three years prior to our evaluation. At that time, an ultrasound revealed an intrahepatic, contracted gallbladder with cholelithiasis. A minimally invasive surgery trained surgeon offered a laparoscopic cholecystectomy. At laparoscopy, the operating team was unable to identify a gallbladder and the cholecystectomy was aborted.

Subsequently, the patient underwent Magnetic Resonance Cholangiopancreatography (MRCP), which again revealed a contracted gallbladder with intraluminal stone and wall enhancement (Figure 1). Despite recommendation for reoperation, the patient had decided upon medical management and was lost to follow up for three years, at which time she was referred to our clinic for evaluation following an episode of presumed biliary colic.