Although biliary system variants are extremely frequent, isolated congenital agenesis of gallbladder is an extremely rare entity with an estimated incidence of per people. The first reports of a gallbladder agenesis date from and by Lemery and Bergman. Some associations with other congenital abnormalities were reported, mainly involving genitourinary, gastrointestinal, cardiovascular systems or skeleton and abdominal wall defects. Fifty percent of the patients are asymptomatic and the diagnosis is made as an incidental finding during another abdominal surgery or at autopsy. The presentation is usually between 2nd and 5th decade of life, with female to male ratio of
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Although biliary system variants are extremely frequent, isolated congenital agenesis of gallbladder is an extremely rare entity with an estimated incidence of per people. The first reports of a gallbladder agenesis date from and by Lemery and Bergman. Some associations with other congenital abnormalities were reported, mainly involving genitourinary, gastrointestinal, cardiovascular systems or skeleton and abdominal wall defects.
Fifty percent of the patients are asymptomatic and the diagnosis is made as an incidental finding during another abdominal surgery or at autopsy. The presentation is usually between 2nd and 5th decade of life, with female to male ratio of Despite all available imaging studies, this entity is usually not diagnosed preoperatively and patients undergo unnecessary surgery with increased risk of iatrogenic injury.
It is our purpose to alert other surgeons for this unusual congenital biliary anomaly as well as to highlight the importance of careful dissection during surgery even with normal prior image studying. A year-old woman presented to the outpatient clinic with complaints of right upper abdominal pain for 6 weeks.
She was medicated with Lisinopril 5mg once a day for hypertension. No past history of abdominal surgery. The pain was described as dull and crampy, sudden in onset with associated nausea and anorexia. Symptoms worsened with meals, mainly with fatty food, and lasted for minutes after each meal. The physical examination was unremarkable, as well as the blood-work, mainly in what concerns to liver-functions tests.
Abdominal ultrasound showed a shrunken fibrotic gallbladder with posterior acoustic shadowing suggesting lithiasis and a normal biliary tree. The patient was scheduled for laparoscopic cholecystectomy. Intraoperatively, the gallbladder, the cystic duct and the cystic artery were not observed in the gallbladder fossa Figure 1 or other possible ectopic sites, despite meticulous inspection of the supra-mesocolic abdominal cavity.
The supraduodenal common bile duct was inspected and didn't seem to have any abnormality. It was decided not to convert the procedure nor to perform an intraoperative cholangiography due to the good visualization of the biliary tract. The postoperative period was uneventful and the subsequent magnetic resonance cholangiopancreatography MRCP confirmed the diagnosis of agenesis of the gallbladder Figure 2 and ruled out an ectopic gallbladder. The patient underwent endoscopic study of the gastrointestinal tract with upper and lower endoscopy, echocardiography and genitourinary tract ultrasound without identification of other congenital malformation.
After surgery the patient achieved a good control of symptoms with butylscopolamine 10mg taken up to three times a day and remains asymptomatic. Although gallbladder agenesis is rarely diagnosed in living patients, it is found with higher incidence in autopsy based studies up to 90 per people.
The pathogenesis, which could result in congenital absence or other malformations of the gallbladder, are poorly understood and probably multiple. Liver, gallbladder and cystic duct begin to develop in the second week of gestation as double ventral outgrowth of the endodermal tube. The first elongates and become the liver and the common bile duct. During the fourth week, it forms the more caudal outgrowth, the cystic bud, the primordium of the gallbladder and cystic duct.
Failure during any stage of this process can result in congenital absence of the gallbladder. Some authors classify patients in three groups: asymptomatic ones with findings in necropsy or as a finding during surgery for other reason; symptomatic ones; and those with other severe congenital anomalies found in childhood. As in our patient case the symptoms could include right upper quadrant pain, as well as, dyspepsia, jaundice, fatty food intolerance and nausea, which make differential diagnosis between gallbladder agenesis and choledocholithiasis, biliary dyskinesia or post- cholecystectomy syndrome, amongst others.
The symptoms reported by the patients with gallbladder agenesis are usually explained by biliary dyskinesia with retrograde contraction of the Sphincter of Oddi , primary choledocolithiasis or extrabiliary symptoms. Historically all cases were diagnosed during surgery or necropsy.
Nowadays, with advance of imaging resources, this cases are more often diagnosed before any intervention. Usually abdominal ultrasound is the only imaging study done before cholecystectomy for lithiasis. However, as happened in this case, ultrasound can be misleading toward an atrophic or fibrotic gallbladder, which is the most frequent radiologic report seen in this patients. Before, when the diagnosis was made during laparoscopy, the option to convert to open procedure was indicated, allowing a better exploration of abdominal cavity as well as the extra-hepatic biliary tree.
The conversion doesn't have any benefit and adds morbidity to the procedure. Nowadays, the majority of authors agree that invasive procedures during surgery should be avoided, and the investigation should continue after surgery with other radiologic and endoscopic modalities. The ERCP has little contribution to the diagnosis, because the non-visualization of the gallbladder can be interpreted as a cystic occlusion. In turn, it is a treatment option allowing sphincterotomy.
The MRCP, as noninvasive imaging method, can be used to diagnosis gallbladder agenesis or to exclude ectopic gallbladder. It should be considered when US is unable to demonstrate the gallbladder. Treatment for symptomatic patients can vary between medication with smooth muscle relaxants and invasive measures like sphincterotomy. Despite being a well-recognized entity and with all advances in biliary tract imaging, the presence of biliary symptoms and a misleading ultrasound study can lead to unnecessary surgery.
Surgeons performing laparoscopic cholecystectomy must be aware of this anomaly to prevent iatrogenic injuries. In fact, newer minimally invasive imaging modalities provide surgeons good means to study the biliary anatomy as well as any anomaly. In cases of intraoperative diagnosis of gallbladder agenesis, it is better to stop the surgery and undergo imaging study. MRCP is the most accurate non-invasive imaging study to establish the diagnosis.
Congenital Absence of Gall Bladder. MJ AFI ; Gallbladder Agenesis. Case Reports in Gastroenterology ; 5: Malformations associated with congenital absence of the gall bladder. Journal of Medical Genetics ; Malde S.
J Med Case Reports ; 4: Agenesis of the Gallbladder: Lessons to Learn. Journal of the Society of Laparoendoscopyc Surgeons ; Similares em SciELO. Patients are usually asymptomatic and the diagnosis is made as an incidental finding during another abdominal surgery or at autopsy. The presence of biliary symptoms and a misleading ultrasound study can lead to unnecessary surgery.
Case Presentation: We present a year-old female proposed to laparoscopic cholecystectomy for suspected symptomatic gallbladder lithiasis in the clinical and radiological studies prior to surgery. During operation the gallbladder was not identified and the procedure was terminated for further diagnostic procedures.
The post-operative study with magnetic resonance cholangiopancreatography confirmed the diagnosis of gallbladder agenesis. Conclusion: The difficulty in diagnosing the absence of gallbladder in the preoperative period can be explained by the infrequency of the condition and consequent low index of suspicion for agenesis when interpreting imaging findings. Surgeons must be aware of this condition and when gallbladder isn't visualized at laparoscopy decide between convert surgery to open procedure or abort surgery and continue study with other imaging techniques.
The latter is a good option, allowing a better characterization of biliary anatomy as well as avoiding morbidity of a laparotomy.
Key Words : Gallbladder, agenesis, laparoscopic cholecystectomy, case report. Rua Xavier Cordeiro, 30 Lisboa secretariado. Como citar este artigo.
Agenesia de la vesícula biliar. Reporte de caso.
Objectives: To investigate the ultrasound characteristics and outcome of fetuses with non-visualization of the fetal gallbladder NVFGB followed in our tertiary university hospital, and to provide a comprehensive review of the literature on prenatal findings and outcome of NVFGB. Methods: NVFGB was defined as non-visualization of the gallbladder on two targeted ultrasound examinations performed within a 1-week period. The incidence of chromosomal anomalies, later visualization of the gallbladder, gallbladder agenesis, cystic fibrosis and biliary atresia was assessed in fetuses with isolated and non-isolated NVFGB. The role of hepatic enzyme measurements in the diagnosis of cystic fibrosis and biliary atresia in fetuses with NVFGB was also reviewed.
Important User Information: Remote access to EBSCO's databases is permitted to patrons of subscribing institutions accessing from remote locations for personal, non-commercial use. However, remote access to EBSCO's databases from non-subscribing institutions is not allowed if the purpose of the use is for commercial gain through cost reduction or avoidance for a non-subscribing institution. Source: Cirugia y Cirujanos. Abstract: Background: Gallbladder agenesis is a very rare congenital abnormality of the biliary tract. The diagnosis is made during surgery, because all preoperative studies have failed to identify this malformation. The purpose of this article is to present a case of gallbladder agenesis diagnosed during surgery, its management, and a review of the literature. Clinical case: The case involves a sixty-two year- old female, referring to repeated biliary colic symptoms.