title: Jejunal Occlusion Caused by Heterotopic Gastric and Duodenal Mucosa: A Late Complication of a Complex Intestinal Malformation.
abstract: We report a rare case of late complication of a complex intestinal malformation. At day 1 of life, a baby girl underwent resection of an atretic jejunal segment, associated with an enteric duplication harboring foci of gastric and duodenal heterotopia. After an asymptomatic period of 19 years, the patient presented with acute bowel obstruction. Recurrence of the jejunal occlusion at the previous anastomotic site was caused by mucosa hyperplasia in association with heterotopic gastric and duodenal tissue. A Wnt/β-catenin pathway deregulation was hypothesized but not confirmed by CTNNB1 exon 3 mutation analysis. This case illustrates a rare association of 3 pathologies-namely, intestinal atresia, enteric duplication, and heterotopia, with a late-occurring acute complication.
authors.affiliation: 1 Geneva University Hospitals, Switzerland.
authors.forename: Olivia
authors.initials: O
authors.lastname: Seyde
authors.affiliation: 1 Geneva University Hospitals, Switzerland.
authors.forename: Giacomo
authors.initials: G
authors.lastname: Puppa
authors.affiliation: 1 Geneva University Hospitals, Switzerland.
authors.forename: Philippe
authors.initials: P
authors.lastname: Morel
authors.affiliation: 1 Geneva University Hospitals, Switzerland.
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Wildhaber
authors.affiliation: 1 Geneva University Hospitals, Switzerland.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Rougemont
mesh_terms: D015746:Abdominal Pain / Q000209:etiology / Q000601:surgery; D000328:Adult; D000714:Anastomosis, Surgical; D002828:Choristoma / Q000473:pathology*; D004252:DNA Mutational Analysis; D004386:Duodenum; D004766:Enterostomy; D005091:Exons / Q000235:genetics; D005260:Female; D005753:Gastric Mucosa; D006801:Humans; D007234:Infant, Premature; D007409:Intestinal Atresia / Q000196:embryology / Q000473:pathology* / Q000601:surgery; D007413:Intestinal Mucosa; D007415:Intestinal Obstruction / Q000150:complications / Q000196:embryology / Q000473:pathology* / Q000601:surgery; D007583:Jejunum / Q000002:abnormalities; D009154:Mutation; D013272:Stomach Diseases / Q000196:embryology / Q000473:pathology*; D014839:Vomiting / Q000209:etiology / Q000601:surgery; D051153:Wnt Proteins / Q000378:metabolism; D060449:Wnt Signaling Pathway; D055815:Young Adult; D051176:beta Catenin / Q000235:genetics / Q000378:metabolism
chemical_list: C495270:CTNNB1 protein, human; D051153:Wnt Proteins; D051176:beta Catenin
keywords: ectopia; gastrointestinal tract duplication; intestinal atresia; β-catenin