Congenital extrahepatic biliary atresia in two brothers.

Abstract

Congenital atresia of the extrahepatic biliary system has seldom been described in more than one member of a family. This note records the condition in two brothers. Case ReportsThe unequivocal diagnosis was made in both brothers at operation and therefore details of the special investigations are not given. The results of these were, however, similar to those frequently described for sporadic cases of the same condition. between the fifth and sixth months of the pregnancy which had been otherwise normal. There was no previous foetal loss. Four generations of the family, comprising, in addition to the parents, 19 second degree relatives and 69 more distant kin, were reviewed without uncovering any significant findings.Jaundice, which rapidly deepened, was present at birth. Laparotomy at 6 weeks showed the liver to be enlarged, smooth, and tense, with thin fibrous cords representing the hepatic, the common bile, and the cystic ducts which were all completely free of bile. The gall-bladder was small and collapsed though the lumen contained some thick green bile. A diagnosis of extrahepatic biliary atresia was made and a cholecystgastroenterostomy was successfully performed.The patient was readmitted at 9 months with a respiratory infection, deep jaundice, and colourless faeces: despite antibiotic therapy he died 10 days later. Necropsy was not performed.Case 2. The second boy in the sibship, bom June 22, 1967, weighed 2876 g. at birth which followed an uneventful pregnancy and normal delivery. He was jaundiced, had colourless faeces, and his abdomen was distended by an enlarged liver. Laparotomy at 5 weeks showed a rudimentary cystic duct and a small lax gallbladder containing 2 ml. of bile-stained viscous fluid. Other parts of the portal duct system were not identified.

Studies of the aetiology of neonatal hepatitis and biliary atresia.

“…The larger studies of this condition (Hsia etal., 1958;Danks and Bodian, 1963;present study) contain no family with a second case among a total of 142 families. Several papers have reported individual families claimed to contain 2 or more babies with EHBA (Nevin et al, 1969). However, careful study of the patients reported shows that some date from the period before NNH was distinguished from EHBA and that most of the more recent cases have suffered from the unusual entity of EHBA plus IHB3A.…”

Idiopathic extrahepatic biliary atresia: Recurrence in sibs in two families

“…Since that time, at least 11 pedigrees of familial EHBA have been reported in which the diagnosis was confirmed by laparotomy and/or autopsy in one or more affected individuals [Glaister, 1879;Hopkins, 1941;Krauss, 1964;Nevin et al, 1969;Parker, 1901;Rumler, 1961;Sweet, 1932;Whitten and Aide, 19521. Pathologic findings of fibrotic ductal remnants from the biliary tree, atretic or absent ducts, bile stasis, inflammation, and often the fibrotic changes of cirrhosis reported in familial cases are indistinguishable from those of sporadic cases [Hopkins, 1941 ;Krauss, 1964;Nevin et al, 1969;Sweet, 1932;Rumler, 1961;Whitten and Aide, 19521. Danks and Bodian [1963] found no other cases among first-and second-degree relatives of 47 infants with EHBA.…”

“…The overall incidence in the United States is estimated at 0.65/10,000 live births [Morecki et al, 19821. While most cases are sporadic, familial occurrence has been reported [Glaister, 1879;Hopkins, 1941; Krauss, 1964;Nevin et al, 1969;Parker, 1901; R u d e r , 1961;Sweet, 1932; Thomson, 1891 Thomson, , 1892 Whitten and Aide, 19521. We report 2 additional sibships in which EHBA has recurred.…”

Mother-to-daughter occurrence of biliary atresia: a case report

“…We have made a survey of the English literature concerning the familial occurrence of BA to accumulate 44 cases from 20 families [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20]. The pattern of occurrence was exclusively in the patient's brother or sister.…”