Beckwith-Wiedemann syndrome, delayed abdominal wall closure, and neonatal intussusception--case report and literature review

Fetal Pediatr Pathol. 2012 Dec;31(6):448-52. doi: 10.3109/15513815.2012.659410. Epub 2012 Apr 9.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abdominal Wall / abnormalities*
  • Anastomosis, Surgical / methods
  • Beckwith-Wiedemann Syndrome / pathology*
  • Beckwith-Wiedemann Syndrome / surgery
  • Echocardiography
  • Foramen Ovale, Patent / diagnosis
  • Hernia, Umbilical / diagnosis
  • Hernia, Umbilical / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / pathology
  • Intestinal Obstruction / surgery
  • Intussusception / congenital*
  • Intussusception / pathology
  • Jejunum / pathology
  • Jejunum / surgery
  • Male