Case Report Open Access
Copyright ©2008 The WJG Press and Baishideng. All rights reserved.
World J Gastroenterol. Feb 14, 2008; 14(6): 941-943
Published online Feb 14, 2008. doi: 10.3748/wjg.14.941
Familial occurrence of congenital bile duct dilatation
Junji Iwasaki, Yoshifumi Ogura, Shunichi Nakagawa, Kenji Kato, Akinobu Kondo, Department of Surgery, Matsusaka City Hospital, 1550 Tono-machi, Matsusaka, Mie 515-8544, Japan
Katsuya Shiraki, First Department of Internal Medicine, Mie University School of Medicine, 2-174, Edobashi, Tsu, Mie 514-8507, Japan
Author contributions: Iwasaki J performed the operation on case 1 and wrote this paper. Ogura Y. provided intraoperative advice for case 1 and also performed the operation on case 2. Nakagawa S. and Kato K. were surgical assistants for case 1. Kondo A. performed general anesthesia for case 1. Shiraki K. provided genetics advice.
Correspondence to: Junji Iwasaki, MD, Department of Surgery, Matsusaka City Hospital, 1550 Tono-machi, Matsusaka, Mie 515-8566, Japan. junji.iwasaki@gmail.com
Telephone: +81-598-231515
Fax: +81-598-218751
Received: September 5, 2007
Revised: November 5, 2007
Published online: February 14, 2008

Abstract

Congenital bile duct dilatation (CBD) that developed in a parent and son is presented. Familial occurrence of CBD is rare, with only a few male cases having been reported. Since the initial report of CBD occurring in siblings in 1981, a total of 20 cases (10 pairs) have been published as of 2007. Clinical and genetic features of CBD are discussed.

Key Words: Congenital bile duct dilatation; Familial occurrence; Choledochal cyst; Choledochocele; Anomalous pancreaticobiliary duct junction



INTRODUCTION

Choledochal cyst is a rare congenital dilatation of the extrahepatic and/or intrahepatic biliary tract. Some possibilities have been postulated regarding inheritance of congenital bile duct dilatation (CBD), since several familial CBD cases have been reported. However, the etiology of CBD is essentially unknown. In this report, a case of familial occurrence of CBD is presented along with a review of the literature.

CASE REPORT

Case 1 was a 65-year-old woman, the mother of case 2, who was admitted to Matsusaka City Hospital, Japan, complaining of back pain and fever. Serum amylase level was normal. Liver function impairment was noted: aspartate aminotransferase (AST) 216 U/L, alanine aminotransferase (ALT) 228 U/L, and total bilirubin 1.3 mg/dL. A CT scan revealed a cystic dilatation of the common bile duct. With the diagnosis of choledochal cyst, the patient underwent cholecystectomy, resection of the dilated bile duct, and hepaticojejunostomy. Intraoperative cholangiopancreatography showed extrahepatic bile duct dilatation and an anomalous pancreaticobiliary duct junction (APBDJ) (Figure 1A and B). Amylase level in the bile was 4735 U/L. Microscopic examination of the resected specimen revealed no evidence of malignancy. The postoperative course was uneventful.

Figure 1
Figure 1 A: Intraoperative cholangiopancreatography, showing cystic dilatation of the common bile duct; B: Intraoperative cholangiopancreatography, showing an APBDJ (arrow).

Case 2 was a 25-year-old man, the son of case 1, who was admitted to Mie University Hospital, Japan, with complaints of epigastric pain and fever. Amylase level in the serum and urine was 2639 and 56 720 U/L, respectively. Endoscopic retrograde cholangiopancreatography (ERCP) showed cystic dilatation of the extra- and intrahepatic biliary ducts associated with APBDJ (Figure 2). With the diagnosis of choledochal cyst, cholecystectomy, excision of the dilated bile duct, and hepaticojejunostomy were performed. Amylase level in the bile was 138 700 U/L. No malignancy was found histologically in the resected specimen. The patient was discharged without any complication.

Figure 2
Figure 2 ERCP showing dilatation of the extra- and intrahepatic bile ducts, as well as an APBDJ (arrow).
DISCUSSION

Congenital choledochal cyst is a relatively rare disease and its incidence is between 1 in 130 000 and 1 in 2 million[10]. There is a female predominance (ratio 1:3)[1112] and the lesions are more common in Asians, with the majority of reported cases in Japan[11]. Choledochal cysts usually present in infancy or childhood, which supports a congenital origin. Although anomalous pancreaticobiliary duct junction (APBDJ) is thought to be an essential causative factor of CBD, the etiology of CBD remains unclear. Since Chiba et al first described in 1981 cases of CBD occurring in siblings[1], a total of 20 cases (10 pairs), including ours, of familial occurrence have been reported (Table 1). Eighteen patients (90%) were women and only two (10%) were men. Of these 10 pairs, four were siblings and six were parent and child. APBDJ was noted in 15 cases (75%). In addition, two pairs (20%) were dizygotic twins who both developed CBD. As for genetic background of CBD, Iwama et al have postulated two possible patterns of inheritance: an X-linked dominant trait or an autosomal dominant trait with relatively low penetrance in males[2]. The present case of CBD with APBDJ suggests a maternally inherited condition, i.e. an X-linked dominant trait. Besides our literature review, a total of six pairs of monozygotic twins have been described in which CBD appeared in one of each pair of twins[1316]. The phenotypic discordance in monozygotic twins cannot be explained only by inheritance. Other factors, such as acquired or environmental conditions, might have a role in the development of CBD. To clarify the etiological basis of CBD, it will be necessary to accumulate more familial cases of CBD.

Table 1 Reported cases of familial occurrence of congenital bile duct dilatation.
YearAuthorsCombinationAgeExtrahepatic bile ductIntrahepatic bile duct dilatationAnomalous pancreaticobiliary duct junction (APBDJ)
1981Chiba[1]Elder sister4 yr 10 moFujiform++
Younger sister3 yr 9 mo++
1985Iwama[2]Mother48 yrFujiform-+
Daughter11 yrCystic-unknown
1986Akiyama[3]Mother34 yrCysticUnknownunknown
Daughter3 mo+unknown
1987Date[4]Elder brother7 yrCystic-+
Younger sister10 yrFujiform-unknown
1990Iwafuchi[5]Mother25 yrCystic++
Daughter2 yr 7 moFujiform-+
1996Narita[6]Mother48 yrCysticUnknown+
Daughter34 yr++
1998Iwata[7]Mother33 yrCholedochocele--
Daughter7 dCysticUnknown+
1999Lane[8]Dizygotic twins3 yrCystic-+
(Females)3 yrFujiform++
2005Tokuhara[9]Dizygotic twins2 yr 4 moFujiform++
(Females)2 yr 6 moCystic-+
2002Our caseMother65 yrCystic-+
Son25 yr++
Footnotes

Peer reviewers: Sharon DeMorrow, Division of Research and Education, Scott and White Hospital and The Texas A&M University System, Health Science Center College of Medicine, Temple, Texas 76504, United States; Stefan G Hübscher, MD, Professor, Department of Pathology, University of Birmingham, Birmingham B15 2TT, United Kingdom

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