title: Extrahepatic biliary atresia and caudal regression syndrome in an infant of a diabetic mother.
abstract: Although most cases of extrahepatic biliary atresia are thought to result from perinatal obliterating inflammation, some are associated with a faulty morphogenesis. The authors report on a baby girl of a mother with ill-managed insulin-dependent diabetes mellitus. The baby presented with sacro-coccygeal agenesis, clubfoot, and ano-urinary incontinence. In addition, there was polysplenia, no inferior vena cava, and the portal vein was grossly distorted. Progressive conjugated hyperbilirubinemia prompted liver biopsy at 4 weeks of age, showing intracanalicular cholestasis without fibrosis. The diagnosis of extrahepatic biliary atresia was confirmed during laparotomy performed for hepatoportojejunostomy. Some cases of extrahepatic biliary atresia might be part of a spectrum of malformations associated with maternal diabetes mellitus.
authors.affiliation: Department of Neonatology, Charite, Virchow Hospital, Berlin, Germany.
authors.forename: Jochen
authors.initials: J
authors.lastname: Herrmann
authors.forename: Martin
authors.initials: M
authors.lastname: Brauer
authors.forename: Ianina
authors.initials: I
authors.lastname: Scheer
authors.forename: Winfried
authors.initials: W
authors.lastname: Barthlen
authors.forename: Christoph
authors.initials: C
authors.lastname: Bührer
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001656:Biliary Atresia; D003922:Diabetes Mellitus, Type 1; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006932:Hyperbilirubinemia; D007231:Infant, Newborn; D011247:Pregnancy; D011254:Pregnancy in Diabetics; D013116:Spinal Cord / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome