Agenesis of gall bladder--a diagnostic dilemma.

KT Vijay, HH Kocher, RS Koti, RD Bapat 
 Department of General Surgery & Gastroenterology Surgical Services, Seth GS Medical College, Parel, Mumbai.

Correspondence Address:
K T Vijay
Department of General Surgery & Gastroenterology Surgical Services, Seth GS Medical College, Parel, Mumbai.

Full Text

::   Introduction

Agenesis of gall bladder is an extremely rare clinical condition. In a collected review of 1,501,061 autopsy cases, only 237 cases of agenesis of gall bladder were found'. It is difficult to diagnose gall bladder agenesis preoperatively as investigations tend to be misleading and therefore it is diagnosed intraoperatively.

::   Case report

IRS, a 50 year old female patient presented with chronic right hypochondria] pain of 6 month duration, associated with dyspepsia, epigastric pain and retrosternal burning without fever, jaundice or vomiting and intolerance to fatty food.

On examination, the patient was anicteric. Abdominal examination was unremarkable. All biochemical and hematological investigations were within normal limits. Upper gastrointestinal endoscopy showed normal findings. Ultrasonography of right hypochondrium was shown to have hyperechoic area in gall bladder fossa, which was reported as a very small and contracted gall bladder. CBD was 8 mm. A HIDA scan study showed a normal liver with normal biliary bowel transit time. Gall bladder was not visualised throughout the study, even after a fatty meal. There was evidence of mild dilatation of right hepatic duct and common bile duct with mild tracer hold up which rapidly cleared after a meal. HIDA scan was suggestive of chronic cholecystitis with dilatation of CBD. A clinical diagnosis of chronic acalculus cholecystitis was made and the patient was posted for elective cholecystectomy with CBD exploration. Intraoperatively. the gall bladder was found to be absent. A meticulous search was made to locate the gall bladder in other possible sites. A per-operative cholangiogram was done which showed mildly dilated extrahepatic biliary system with non-visualisation of gall bladder. There was no filling defect in the biliary tree. There was free flow of dye into the duodenum [Figure:1]. The diagnosis of cholecystic agenesis was made on table and the abdomen was closed.

Postoperative recovery was uneventful. On the 10th postoperative day, a CT scan of the abdomen was performed after ingestion of Telepac tablets to document the agenesis of gall bladder; which also failed to demonstrate the gall bladder [Figure:2]. However, it showed multiple cysts in both the kidneys. Family screening was not possible as relatives were not available. The patient was asymptomatic at the 3 month follow up.

::   Discussion

Agenesis of gall bladder is an extremely rare condition with an incidence of 0,010.02%[2]. Several studies have revealed a strong familial association with this condition[2]. Any defect in the developmental process leads to the agenesis of gall bladder. This anomaly is transmitted as nonsex linked trait with variable penetration the actual incidence is not known[3].

After a review of 400 cases of agenesis of gall bladder, three groups of presentations were noted:

a. Asymptomatic patients who are diagnosed as incidental finding on abdominal exploration for some other reason. (35%)

b. Symptomatic agenesis  One third of these patients will have dilated CBID and another one third will have stones in CBD 150%).

c. Children with congenital anomalies like agenesis of lung, Tetralogy of Fallot, anomalous extremities, genitourinary, and rarely gastrointestinal anomalies. The complexity of the situation makes this patient incompatible with survival (1516%).

In symptomatic cholecystic agenesis, patients undergo surgery for right hypochondrial symptoms only to find no gall bladder on table. Common symptoms include chronic right upper quadrant pain (90%), dyspepsia (30%), nausea and vomiting (66%), fatty food intolerance (37%), jaundice (35%). Possible mechanisms of symptoms include primary duct stones, biliary dyskinesia or nonbiliary disorder.

Commonly performed investigations tend to mislead the diagnosis of this clinical entity, as a result of which preoperative diagnosis is almost impossible Ultrasonography is highly operator dependent: periportal tissues or subhepatic peritoneal folds are usually focussed and interpreted as thick, contracted, shrunken or scarred gall bladder. Failure to see the gall bladder on HIDA scan and OCG is interpreted as non-functioning or diseased gall bladder. All cases of acute cholecystitis and several cases of chronic cholecystitis will have nonvisualisation of gall bladder on HIDA and OCG. These fallacies in investigations often lead to an erroneous diagnosis of acalculus cholecystitis.

Intratoperatively, if the gall bladder is not visualised in its normal anatomic position, a thorough search should be carried out in the ectopic locations viz., intrahepatic, left sided, beneath the posteroinferior surface of liver between the leaves of lesser omentum, retroperitoneal, retrohepatic, within the falciform ligament. retropancreatic and retroduodenal. Any scar in porta hepatis and gall bladder fossa should be dissected. Complete Kocherisation of duodenum should be done. If all these manoeuvres fail to identify the gall bladder per-operative cholangiography is mandatory to look for:

a) intrahepatic gall bladder

b) ectopic gall bladder.

c) stones in CBD (which is the commonest association).

CBD exploration is carried out only if the cholangiogram shows calculi in CBD or CBD is dilated more than 20 mms. If cholangiogram is otherwise normal, nothing further needs to be done. These patients generally become asymptomatic in the postoperative period. A probable explanation that has been given is lysis of periportal and right hypochondrial adhesions at the time of surgery.

In conclusion, the diagnosis of gall bladder agenesis is probably impossible preoperatively and therefore remains a diagnostic dilemma.

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