title: Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review.
abstract: We present the extremely rare case of a male newborn with Beckwith-Wiedemann Syndrome (BWS) presenting as delayed abdominal wall closure and neonatal intussusception. Fetal ultrasound had shown omphalocele that resolved spontaneously. When feeding was attempted, he had various episodes of vomiting. An x-ray showed signs of high bowel obstruction. Jejunal intussusception was found on laparotomy. Enterectomy and primary jejuno-jejunal anastomosis was performed. During post-operative period subtle physical findings became prominent: plain hemangioma, posterior helical indentations, and macroglossia. Cardiac ultrasonography showed a patent foramen oval with small left-to-right shunt. Ultrasonography showed renal hyperplasia. Genetic study showed hypomethylation of DMR2 region of 11p15 chromosome.
authors.affiliation: Centro Hospitalar do Porto, Department of Pediatric Surgery, Porto, Portugal. moreirapinto@gmail.com
authors.forename: João
authors.initials: J
authors.lastname: Moreira-Pinto
authors.forename: Joana
authors.initials: J
authors.lastname: Pereira
authors.forename: Angélica
authors.initials: A
authors.lastname: Osório
authors.forename: Carlos
authors.initials: C
authors.lastname: Enes
authors.forename: Céu R
authors.initials: CR
authors.lastname: Mota
mesh_terms: D034861:Abdominal Wall / Q000002:abnormalities*; D000714:Anastomosis, Surgical / Q000379:methods; D001506:Beckwith-Wiedemann Syndrome / Q000473:pathology* / Q000601:surgery; D004452:Echocardiography; D054092:Foramen Ovale, Patent / Q000175:diagnosis; D006554:Hernia, Umbilical / Q000175:diagnosis / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000473:pathology / Q000601:surgery; D007443:Intussusception / Q000151:congenital* / Q000473:pathology; D007583:Jejunum / Q000473:pathology / Q000601:surgery; D008297:Male