• Cholangitis
• Fistula
• Gallbladder Agenesis
• Gastro-intestinal

Gallbladder Agenesis, the congenital absence of the gallbladder, is a very rare biliary anomaly found in 13 to 65 people per 100,000. Symptomatic patients usually present with abdominal pain, nausea, and emesis, and are often misdiagnosed with gallbladder pathologies leading to unnecessary operations.

We report the case of a 63-year-old Caucasian female patient who presented with recurrent right upper quadrant pain (RUQ) and found to have a contracted gallbladder on ultrasonography (US). A hepatobiliary iminodiacetic acid (HIDA) scan was positive, and the patient was misdiagnosed with chronic cholecystitis. No gallbladder was found on laparoscopy and patient was diagnosed intraoperatively with gallbladder agenesis. Normal biliary anatomy was confirmed intraoperatively using the Firefly technique and there was no ectopic gallbladder on computed tomography (CT) scan obtained postoperatively. Patient currently doing well on conservative pain management.

Patients with gallbladder agenesis and normal bile ducts often have symptoms similar to that of usual gallbladder problems. Accurately diagnosing these patients preoperatively remains a challenge.

Symptomatic patients with agenesis of the gallbladder are often diagnosed intraoperatively despite major advances in diagnostic imaging techniques. In these cases, minimizing the risk of injury to the biliary tree is crucial. As our case demonstrates, it is critical for surgeons to become increasingly aware of this rare and important congenital anomaly. A very high index of suspicion is warranted in patients with a shrunken or contracted gallbladder. When in doubt, obtain cross-sectional imaging.

•

Gallbladder agenesis is a very rare congenital anomaly with symptoms similar to biliary pathologies.

Gallbladder agenesis (GA) is a very uncommon disorder of the biliary system. Diagnosis of GA can be difficult and may result in unnecessary procedures. In this case report, we will discuss our experience with an intraoperative accidental diagnosis of GA in a middle-aged woman that was effectively treated. Case Presentation. A 46-year-old woman presented with abdominal pain, nausea, vomiting, and intolerance to meals. Laparoscopic surgery was conducted based on sonographic imaging and a preliminary diagnosis of chronic cholecystitis. No gallbladder was seen during laparoscopy, and the patient was diagnosed as a case of GA. The laparoscopy was terminated, and the patient was referred for magnetic resonance cholangiopancreatography (MRCP) to confirm the diagnosis. Finally, endoscopic retrograde cholangiopancreatography (ERCP) and sphincterotomy were performed to alleviate symptoms. After one year of follow-up, the patient's overall condition is satisfactory and symptom-free.

Our case exemplifies this common blunder. Therefore, we are reporting a case of GA discovered intraoperatively to increase surgeons' awareness and preparedness for this possible differential diagnosis and minimize unnecessary operational intervention.

• fetal diseases
• gallbladder
• hernia, umbilical
• methimazole
• vitelline duct

• Antithyroid Agents/adverse effects
• Child
• Female
• Fetal Diseases
• Gallbladder/diagnostic imaging
• Humans
• Hyperthyroidism
• Infant
• Infant, Newborn
• Male
• Methimazole/adverse effects
• Pregnancy

• Biliary Colic
• Cholecystitis
• Choledocholithiasis
• Gallbladder agenesis

Agenesis of the gallbladder and cystic duct represents one of the rarest anomalies of the biliary system, with a reported incidence of 0.007% to 0.027%. Almost half of the patients develop common duct stones and 23% of them manifest signs and symptoms that mimic biliary colic. We present the case of a woman presenting with symptoms of biliary colic. Based on the clinical findings and after abdominal ultrasonography, which showed hyperechoic material in the gallbladder fossa, a laparoscopic cholecystectomy was planned. Laparoscopy failed to reveal either gallbladder or cystic duct. The procedure was continued to further search for ectopic sites of gallbladder. A condition of gallbladder agenesis was hypothesized and the procedure was aborted without dissection of hepatic pedicle or conversion to laparotomy. Agenesis of gallbladder and cystic duct was confirmed via pos-operative magnetic resonance cholangiopancreatography. We report our experience with regard to the challenges associated with the diagnosis and management, and a brief review of the literature of this rare pathology.

• Congenital abnormalities of the biliary tract
• Gallbladder agenesis
• Laparoscopic cholecystectomy

• Ectopic gall bladder
• Gallbladder agenesis
• Hepatobiliary scintigraphy

Congenital agenesis of the gallbladder is a rare anomaly which is usually asymptomatic and found incidentally. In some cases, however, patients are symptomatic. Common symptoms include right upper quadrant abdominal pain, nausea, and vomiting. Jaundice is present in some symptomatic cases and is due to associated choledocholithiasis (Fiaschetti et al. 2009). In this case, a 63-year-old female presents with jaundice and episodic right upper quadrant abdominal pain with nausea and vomiting. Bilirubin and alkaline phosphatase were found to be markedly elevated. Upper endoscopic ultrasound (EUS) revealed choledocholithiasis, and the patient required multiple endoscopic retrograde cholangiopancreatography (ERCP) sessions before successful extraction of all stones. Subsequent surgical exploration revealed congenital agenesis of the gallbladder. Although this is a rare finding, patients with agenesis of the gallbladder are at increased risk of developing de novo choledocholithiasis which may be challenging to extract.

Patient: Female, 68

Final Diagnosis: Gallbladder agenesis with situs inversus totalis

Symptoms: Epigastric pain • jaundice

Medication: —

Clinical Procedure: —

Specialty: Surgery

• Choledocholithiasis
• Gallbladder
• Situs Inversus

• Adult
• Chromosomes, Human, Pair 13
• Female
• Gallbladder/abnormalities
• Humans
• Trisomy

• Choledochal cyst
• Hypoplastic gallbladder
• Rudimentary gallbladder

• Adult
• Cholangiopancreatography, Magnetic Resonance
• Cystic Duct/abnormalities
• Diagnosis, Differential
• Female
• Gallbladder/abnormalities
• Humans
• Laparoscopy
• Obesity, Morbid
• Pain Management

• Congenital abnormality
• MRCP
• gallbladder agenesis
• gallbladder scleroatrophic
• renal agenesis

• Biliary colic
• Conservative management
• Gallbladder agenesis
• Magnetic resonance cholangiopancreatography
• Sphincterotomy

Agenesis of the gallbladder is a rare congenital anomaly occurring in 13 to 65 people of a population of 100,000. The rarity of the condition, combined with clinical and radiologic features that are indistinguishable from those of more common biliary conditions, means that it is rarely diagnosed preoperatively, and patients undergo unnecessary operative intervention.

This case report describes the case of a 79-year-old symptomatic Caucasian man who underwent laparoscopic cholecystectomy for suspected choledocholithiasis despite imaging studies raising suspicion of gallbladder agenesis. Intra-operatively, the diagnosis of gallbladder agenesis and associated common bile duct stones was made.

The preoperative diagnosis of this rare condition is difficult to make. However, with advances in biliary tract imaging and with heightened awareness of this anomaly, fewer patients will need to undergo unnecessary operative intervention. The authors review the different imaging modalities available to help diagnose this condition and highlight the importance of being aware of this rare anomaly to avoid an operation that carries a high risk of iatrogenic injury.

Gallbladder agenesis is uncommon. In contrast, liver haemangiomas are the most common type of benign liver lesions. We describe the first documented case of gallbladder agenesis where the clinical presentation was consistent with biliary colic, and radiological investigation suggested the presence of gallstones. Subsequent operative findings revealed a solitary haemangioma of the liver sited in the normal position of the gallbladder fossa but with absence of the gallbladder. It is important that clinicians should keep gallbladder agenesis in mind when the gallbladder appears abnormal on preoperative imaging studies and cannot be found at laparoscopy. As symptoms will improve in 98% of cases, it is very important to avoid unnecessary intervention in patients who have a negative laparoscopy. The clinical presentation, investigations, and operative findings are discussed with a review of other relevant reported cases in the literature.

• Duodenal Obstruction/congenital
• Duodenal Obstruction/surgery
• Female
• Gallbladder/abnormalities
• Humans
• Infant, Newborn
• Intestinal Atresia/complications
• Intestinal Atresia/surgery
• Intestinal Obstruction/congenital
• Intestinal Obstruction/surgery
• Reoperation

• Abdominal Pain/diagnosis
• Abdominal Pain/etiology
• Adult
• Cholelithiasis/diagnosis
• Cholelithiasis/diagnostic imaging
• Cholelithiasis/surgery
• Congenital Abnormalities/diagnosis
• Congenital Abnormalities/diagnostic imaging
• Congenital Abnormalities/surgery
• Diagnosis, Differential
• Female
• Follow-Up Studies
• Gallbladder/abnormalities
• Humans
• Intraoperative Complications/diagnosis
• Intraoperative Complications/surgery
• Laparotomy/methods
• Rare Diseases
• Risk Assessment
• Treatment Outcome
• Ultrasonography, Doppler

• Aged
• Choledocholithiasis/diagnosis
• Choledocholithiasis/etiology
• Diagnosis, Differential
• Female
• Gallbladder/abnormalities
• Humans
• Jaundice, Obstructive/diagnosis
• Jaundice, Obstructive/etiology

Isolated agenesis of the gallbladder is a rare anomaly, often asymptomatic. However, one patient out of four presented with right upper abdominal pain, nausea, and fatty food intolerance. The condition is frequently mistaken with an excluded or sclero-atrophic gallbladder, regardless of the imaging modality used. Consequently, AG often leads to unnecessary and potentially dangerous laparoscopic surgery as described in a few case reports over the last 10 years. The aim of this study is to clarify the diagnostic and therapeutic approach of this unusual pathology. Two cases seen in our institutions were retrospectively reviewed, together with a review of the American and European literature. During laparoscopy, the absence of normal anatomical structures and the impossibility of pulling on the gallbladder to expose and dissect the triangle of Callot increases the risk of iatrogenic injury to biliary or portal structures. Depending on the experiment of the surgeon in laparoscopic procedure, this has to be taken into account to decide a conversion to laparotomy. A high index of suspicion is necessary when interpreting the radiological images. In case of doubt, a MRI-cholangiography is mandatory. Because of possible inherited transmission, relatives with a history of biliary symptoms should be investigated.

• Gallbladder
• Laparoscopy
• Pathology

• Abdominal Pain/pathology
• Adult
• Aged
• Diagnostic Errors
• Gallbladder/abnormalities
• Humans
• Laparoscopy
• Male

• Abnormalities, Multiple/epidemiology
• Epidermolysis Bullosa/epidemiology
• Esophageal Atresia/epidemiology
• Female
• Gallbladder/abnormalities
• Humans
• Infant, Newborn
• Intestines/abnormalities
• Male
• Practice Guidelines as Topic
• Pylorus/abnormalities

• Animals
• Dog Diseases/diagnosis
• Dog Diseases/surgery
• Dogs
• Female
• Gallbladder Diseases/diagnosis
• Gallbladder Diseases/surgery
• Gallbladder Diseases/veterinary
• Liver/pathology
• Liver Cirrhosis/diagnosis
• Liver Cirrhosis/pathology
• Liver Cirrhosis/veterinary

• Anophthalmos
• Cryptorchidism
• Esophageal Atresia
• Humans
• Infant, Newborn
• Male
• Phenotype
• Syndrome