Agenesis of the Gallbladder --A Case Report-Mohammad IBRARULLAH,Sadiq S. SIKORA,Vinay K. KAPOOR, Sandeep AWASTHIand Lav K. KACKER ABSTRACT: Agenesis o f the gallbladder, which is an extremely rare anomaly, may present with biliary symptoms but is virtually impossible to diagnose by such conventional investigations as oral cholecystogram or ultrasonography. We report herein a case o f a young m a n presenting with episodic epigastric pain on whom an u l t r a s o n o g r a p h i c diagnosis of gallstones was made. A gallbladder was not visualized o n oral cholecystogram, however, he was subsequently f o u n d to have agenesis of the gallbladder, the diagnosis of which was confirmed by intra,operative cholangiography and a postoperative N-2,6-dimethylphenylcarbamoyle methyl iminodiacetic acid scan (HIDA scan). His symptoms responded to antiulcer treatment with upper gastrointestinal endoscopic findings suggestive of oesophagitis and duodenitis. KEY WORDS:

congenital anomaly, agenesis of the gallbladder

INTRODUCTION

CASE REPORT

2"kgenesis of the gallbladder is a rare disorder with an incidence o f no more than one in over 6000 live-births as reported in a collective review of several autopsy series? T h e symptoms o f agenesis, when present, are the same as those seen in postcholecystect0my syndrome? In symptomatic patients the absence of a gallbladder is virtually impossible to detect pre-operatively since all conventional investigations point to a diseased gallbladder rather than the absence of one.

An 18 year old male presented with episodic and often colicky epigastric pain of 8 years duration. H e also had associated retrosternal burning, flatulence and dyspepsia. T h e r e was no history o f jaundice, hematemesis or melena. His referral diagnosis was cholelithiasis b a s e d o n ultrasonographic findings which revealed a band of acoustic shadow e m a n a t i n g f r o m the gallbladder fossa. T h e gallbladder outline, however, was indiscernible. In view o f the young age and predominance o f reflux symptoms, an upper gastrointestinal endoscopy and oral cholecystography (OCG) were done. Endoscopy revealed mild oesophagitis and duodenitis while the gallbladder was not visualized on OCG. H e m o g r a m and liver function tests were normal. Because o f the symptoms being so out of proportion t o the endoscopic findings and the non-functioning or nonvisualized gallbladder, he was advised to u n d e r g o cholecystectomy with a clinical

A

The Department of Surgical Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India Reprint requests to: Vinay K. Kapoor, MS, DNB, The Department of Surgical Gastroenterology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Post Box 375, Lucknow-226001, U.P., India

JAPANESEJOURNALOFSURGERY,VOL.21, No. 5 pp. 580-582, 1991

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gallbladder or cystic duct. T h e oesophageal hiatus, stomach, d u o d e n u m and remaining abdominal viscera were normal. Postoperatively a HIDA scan was performed which confirmed the cholangiogram findings (Fig. 2). The patient had a normal recovery and was subsequently c o m m e n c e d on H 2 blocker drugs to which he responded. Ultrasonography o f his parents and siblings revealed that all had a normal gallbladder. Discussion

Fig. 1. Intra-operative cholangiogram by needle puncture.

Fig. 2. HIDA scan outlining the hepatobiliary system and excretion in the bowel.

diagnosis o f cholelithiasis. At laparotomy, the gallbladder fossa was empty and there was no evidence o f inflammation. T h e comm o n bile d u c t (CBD) was of normal calibre and a needle puncture cholangiogram revealed a normal CBD with the hepatic bifurcation, (Fig. 1). T h e r e was no trace o f the

Agenesis o f the gallbladder is a developmental anomaly which may be familial? An extensive search of the literature from India revealed only two other reported cases of gallbladder agenesis in the last 10 years. 4,5 Bennion categorises these patients into three groups: those with associated multiple foetal anomalies, those who are asymptomatic and those who are symptomatic? In the'last group, symptoms could be attributed to primary bile duct stone, biliary dysldnesia or non-biliary causes. A review of the world literature revealed the presence of a dilated CBD in 32 per cent and CBD stones in 27 per cent of symptomatic patients? In the symptomatic patients, a diagnostic e r r o r is u n a v o i d a b l e as u l t r a s o n o g r a p h y a n d / o r OCG are the most commonly performed investigations. Non-visualization o f t h e g a l l b l a d d e r o n u l t r a s o u n d c a n be ascribed to a diseased g a l l b l a d d e r with lumen obliteration, physiologic contraction, technical error, ectopic location or agenesis. ~ In fact, non-visualization o f the gallbladder is observed in 88-96 per cent o f patients with gallbladder disease and is a reliable indicator, particularly in the presence of shadowing from the gallbladder fossa. 7 However, shadowing could also be caused by duodenal gas or fibrous tissue in the porta hepatis. ~ A non-visualized gallbladder o n OCG is usually ascribed to obstruction o f the cystic duct or neck of the gallbladder or chronic cholecystitis.

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At surgery, an empty gallbladder fossa may m e a n either an ectopic location or agenesis. A n e e d l e p u n c t u r e c h o l a n g i o g r a m confirms the diagnosis a n d also rules out p r i m a r y ductal stones, a I n the a b s e n c e o f a n y d e m o n strable p a t h o l o g y in the biliary system, the symptomatic patient with possible agenesis o f the gallbladder s h o u l d b e investigated in the same way as o n e with postcholecystectomy syndrome, biliary dyskinesia or n o n biliary causes. I n the case r e p o r t e d herein, non-visualization o f the gallbladder o n u l t r a s o n o g r a p h y a n d OCG, together with the p r e s e n c e o f a s h a d o w f r o m the gallbladder fossa led to an initial diagnosis o f cholelithiasis. However, while an intra-operative cholangiogram ruled out a n y associated biliary lesions, an u p p e r gastrointestinal e n d o s c o p y h e l p e d in d i a g n o s i n g the cause o f his symptoms. (Received for publication o n May 28, 1990)

REFERENCES

1. Bennion RS, Thompson JE, Tompkins RK. Agenesis of the gallbladder without extra-hepatic biliary atresia. Arch Surg 1988; 123: 1257-1260. 2. Dixon CF, Lichtman AL. Congenital absence of gallbladder. Surgery 1945; 17:11-21. 3. WilsonJE, DietfickJE. Agenesis of gallbladder: case report and familial investigation. Surgery 1986; 99: 106-109. 4. Bose SM. Agenesis of gallbladder with choledochocolonic fistula. Am J Gastroenterol 1983; 78: 34-35. 5. Sharma OP. Agenesis of gallbladder. J Indian Med Assoc 1983; 81: 170-173. 6. Harbin WP, FerruciJ Jr, Witten Berg J, Kirkpatrick RH. Non-visualized gallbladder by cholecystosonography. AJR 1979; 132: 727-728. 7. Carde M, Taylor KJW, Rosenfield AT, deGraff C, Minihan P. Surgical and pathologic correlation of cholecystosonography and cholecystography. AJR 1978; 131: 227-229.