Extrahepatic biliary atresia associated with trisomy 18

Abstract

A case of extrahepatic biliary atresia (EBA) associated with trisomy 18 is presented. A 1-month-old boy was suspected to have Alagille syndrome with obstructive jaundice, a systolic heart murmur, growth retardation, and a small, pointed chin. However, surgery and chromosomal analysis revealed EBA associated with trisomy 18. Chromosomal examination must be performed in patients with jaundice and congenital anomalies. It is possible that EBA in trisomy 18 syndrome is due to a chromosomal disorder.

Partial proximal 10q trisomy: a new case associated with biliary atresia

“…While several mechanisms are thought to be implicated in biliary atresia pathogenesis (fetal circulation defect, toxin exposure, infection, immune dysregulation), the embryonic form of the disease associating visceral organ asymmetry or polysplenia was shown to be associated to mutations in the INV gene (Bezerra 2005). Biliary atresia has also been documented in trisomy 18 (Alpert et al 1969; Buffa et al 1972; Ikeda et al 1999) and as a part of a digestive polymalformative syndrome associated with trisomy 21 (Pameijer et al 2000). Three reports documented anorectal malformation associated to chromosome 10q abnormalities: one with 10q proximal trisomy (Lam et al 2000), and two others with 10q monosomy (Tsukuda et al 1996; Maruyama et al 2001).…”

“…Deep set or small eyes 1972;IKEDA et al 1999) and as a part of a digestive polymalformative syndrome associated with trisomy 21 (PAMEIJER et al 2000). Three reports documented anorectal malformation associated to chromosome 10q abnormalities: one with 10q proximal trisomy (LAM et al 2000), and two others with 10q monosomy (TSUKUDA et al 1996;MARUYAMA et al 2001).…”

An Unusual Case of Trisomy 18 Associated with Paucity of Bile Ducts

“…There are only a few cases of trisomy 18 associated with extrahepatic biliary atresia, but not with paucity of interlobular bile duct in the literature [11][12][13]. To our knowledge, this is the first case in the literature of Trisomy 18 associated with paucity of interlobuler bile duct.…”

Biliary atresia associated with multiple unrelated anomalies: what about it?

“…The association with congenital defects, the occurrence in well-known syndromes ( Table 2) and the onset of symptoms very shortly after birth strongly suggest an antenatal beginning of biliary atresia [5][6][7][8]. Moreover, in order to strengthen this latter theory, several affected cases were reported Ectopic umbilical liver and ectopic jejunal pancreas Park et al [17] No No Alive 2 Anorectal malformation, absent left kidney Varty and Kapila [15] No Yes Died at 9 months 3…”