gall-bladder agenesis associated...

ttPSurgery, 1995, Vol. 8, pp. 253-255Reprints available directly from the publisherPhotocopying permitted by license only

(C) 1995 OPA (Overseas Publishers Association)Amsterdam B.V. Published in The Netherlands

by Harwood Academic Publishers GmbHPrinted in Malaysia

Gall-Bladder Agenesis andAssociated Anomalies

CONSTANTINOS YIANGOU*

Registrar, Department of Surgery, Central Middlesex Hospital, London NW10

BRIAN SHOREY

Consultant Surgeon, Hillingdon Hospital, Uxbridge, Middlesex

ALLAN D. SPIGELMAN**

Senior Lecturer and Honorary Consultant Surgeon, Academic Surgical Unit,St. Mary’s Hospital Medical School, London W2

(Received April 1, 1994)

Congenital absence of the gall-bladder is a rare condition. It is sometimes associated with othercongenital defects. We report here two cases of gall-bladder agenesis discovered at laparoscopy.Both had a history of skeletal and cardiovascular anomalies. The investigation of patients withabsent gall-bladder can be very difficult. Ultrasound scanning is usually inconclusive andfurther noninvasive tests should be performed to establish the diagnosis and prevent anunnecessary operation. The presence of other congenital defects should alert the clinician to thepossibility of gall-bladder agenesis.

KEY WORDS: Gall bladder agenesis congenital anomalies investigation of

INTRODUCTION

Congenital absence of the gall-bladder is a rare condi-tion. It is sometimes associated with cardiac defects,polycystic kidneys, gastrointestinal and other abnor-malities (eg, cleft lip and palate) 1-3.We report two cases of gall-bladder agenesis asso-

ciated with cardiac defects and skeletal abnormalities.The particular skeletal defects found in the presentcases have not been reported before.

Addressfor correspondence:*Present Appointment: Research Fellow, Department ofOncology,Charing Cross Hospital, London. **To whom correspondence andrequests for reprints should be addressed, at St. Mary’s HospitalMedical School, London W2.

Case I

A 42 year old woman presented to the Surgical Outpa-tients Department with a 4 month history of intermit-tent right hypochondrial pain, provoked by fatty food.As a child, she underwent pyloromyotomy for congeni-tal hypertrophic pyloric stenosis and also ligation of apatent ductus arteriosus. Other congenital abnormali-ties included absence of the right thumb and spinabifida occulta. Preoperative liver function tests werewithin normal limits. An ultrasound scan ofher biliarytree did not identify the gall-bladder. An oral cholecy-stogram was then performed, during which the gall-bladder did not opacify. This was thought to be consis-tent with a shrunken gall-bladder secondary to chroniccholecystitis.

Based on the above tests, the decision was madeto perform cholecystectomy. At laparoscopy, no gall-bladder was found in the gall-bladder fossa. The

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254 C. YIANGOU, S. SHOREY AND A. D. SPIGELMAN

extrahepatic biliary tree was dissected out and neitherthe gall-bladder nor the cystic duct were identified. Adiagnosis of congenital absence of the gall-bladderwas therefore made. After an uneventful postoperativerecovery an upper gastrointestinal endoscopy showed asmall hiatus hernia with no evidence of refluxoesophagitis. Six months after the operation she re-mains well and, apart from two episodes of upper ab-dominal discomfort, is asymptomatic.

Case 2

A 27 year old woman with a family history of gall-stones (maternal grandmother and aunt) presentedwith a 2 year history ofintermittent right upper quad-rant abdominal pain which was worse after fattymeals. As a child, she underwent surgery to close anatrial septal defect and to correct a lower limb defor-mity secondary to an absent fibula. An ultrasoundscan of her upper abdomen was thought to demon-strate a contracted gall-bladder. Oral cholecystogra-phy was then performed, during which the gall-blad-der failed to opacify.

The diagnosis ofchronic cholecystitis secondary tocholelithiasis was made and an elective laparoscopiccholecystectomy planned. At laparoscopy no gall-bladder was found. Due to subhepatic adhesions,laparoscopic dissection ofthe extrahepatic biliary treewas difficult. A laparotomy was, therefore,performedand a careful exploration confirmed the absence ofthegall-bladder as did a peroperative cholangiogram.Her postoperative recovery was good. However, shestill gets intermittent right hypochondrial pain andfurther investigations of the upper gastrointestinaltract are planned.

also shown to be associated with thalidomide anoma-lies and other gastrointestinal defects which include:duodenal stenosis, pylorospasm, imperforate anus andabsence of the appendix3. One of our patients hadpyloric stenosis as an infant and both patients hadcardiac and skeletal defects.

In a previous study 1, there were four children in themultiple anomaly group,they all died of their non-bil-iary defects which were similar to the ones mentionedabove, but of greater severity. The skeletal abnormali-ties included malformation of the left hand, fore-arm, fifth digit and a prominent occiput. The skeletaldefects of our two patients (absence of the thumb andfibula) have not been reported before.We suggest that patients suspected of having symp-

tomatic gall stones usually undergo abdominal ultra-sound scanning in the first instance. If this fails to showthe gall-bladder, then an oral cholecystogram should bedone. Non-opacification of the gall-bladder at oralcholecystography implies that the gall-bladder is eithernonfunctioning or absent.

Further non-invasive tests may resolve the situation.An abdominal CT scan should be undertaken, and ifthegall bladder is still not seen endoscopic retrograde cho-langiopancreatography (ERCP) should follow. Thiswill almost certainly exclude an abnormally sited gall-bladder and may demonstrate a vestigial cystic duc0.If all the above investigations are inconclusive, thena laparoscopy should be performed to look for ashrunken gall bladder or other pathology that the pre-vious tests might have missed.

The two cases reported here, indicate that the pres-ence of other congenital abnormalities, especially skel-etal defects, should alert the clinician to the possibilityof gall-bladder agenesis.

REFERENCES

DISCUSSION

The gall-bladder develops from the hepatic diverticu-lum, which arises from the distal foregut,in the third tothe fourth week of intrauterine life4. Agenesis of thegall-bladder was first described in 17015 It has anestimated incidence of 0.01-0.05% in patients under-going a laparotomy for suspected biliary disease6,7

and 0.04% at post-mortem8.Absence of the gall-bladder can occur as part of a

syndrome and the congenital anomalies described in-clude, polycystic kidneys, cardiopulmonary defects,skeletal deformities, clift lip and cleft palate 1,2. It was

1. Bennion, R.S., Thompson, J.E., Tompkins, R.K. (1988) Agenesisof the gall-bladder without extrahepatic biliary atresia. Surgery,1260, 1257-60.

2. Turkel, S.B., Swanson, V., Chandrasoma, P. (1983) Malforma-tions associated with congenital absence of the gall-bladder. J.Med. Genet., 20, 445-9.

3. Smithells, R.W. (1973) Defects and disabilities of thalidomidechildren. Br. Med. J., 1,269-72.

4. Gray, S.W., Skandalakis, J:E. (1972) Extrahepatic biliary ductsand the gall-bladder.In Embryology for Surgeons, pp. 229-62.London: W.B. Saunders.

5. Bower, J.O. (1928) Congenital absence of the gall-bladder. Ann.Surg., 88, 80-90.

6. Allan, S., Hurrell, T. A. (1974) Agenesis of the gall-bladder andcystic duct: a report of the three cases. Br.J. Surg., 61, 145-6.

7. Ahlberg, J., Angelin, B., Einarsson, K., Leijd, B. (1978) Biliarylipid composition and bile acid kinetics in patients with agenesis of

GALL-BLADDER AGENESIS 255

the gall-bladder, with a note on the frequency of this anomaly.Acta Chir. Scand., 482, 15-20.

8. Mcllrath, D. C., ReMine, W. H., Baggenstoss, A. H. (1962)Congenital absence of the gall-bladder and cystic duct. JAMA,180, 782-3.

9. James, N. K., Leaper, D. J. Further problems with thalidomide.J.R. Coll. Surg. Edinb. 34, 167-8.

10. Hershman, M. J. Southern, S. J., Rosin, R. D. (1992) Gall-bladder agenesis diagnosed at laparoscopy. J.R.S. Med. 85,702-3.

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