Severe acute abdomen caused by symptomatic Meckel's diverticulum in three children with trisomy 18

Am J Med Genet A. 2015 Oct;167A(10):2447-50. doi: 10.1002/ajmg.a.37098. Epub 2015 Apr 5.

Abstract

Meckel's diverticulum (MD) is the most prevalent congenital anomaly of the gastrointestinal tract and often presents a diagnostic challenge. Patients with trisomy 18 frequently have MD, but the poor prognosis and lack of consensus regarding management for neonates has meant that precise information on the clinical manifestations in infants and children with MD is lacking. We describe the cases of three children with trisomy 18 who developed symptomatic MD. Intussusception was diagnosed in Patient 1, intestinal volvulus in Patient 2, and gastrointestinal bleeding in Patient 3. All three patients underwent surgical treatment and only the Patient 1 died due to pulmonary hypertensive crisis. The other two patients experienced no further episodes of abdominal symptoms. In patients with trisomy 18, although consideration of postoperative complications and prognosis after surgical treatment is necessary, symptomatic MD should carry a high index of suspicion in patients presenting with acute abdomen.

Keywords: 18 trisomy; Meckel's; acute abdomen; children; diverticulum.

Publication types

  • Case Reports

MeSH terms

  • Abdomen, Acute / diagnosis*
  • Abdomen, Acute / genetics
  • Abdomen, Acute / pathology
  • Abdomen, Acute / surgery
  • Child, Preschool
  • Chromosomes, Human, Pair 18 / genetics
  • Female
  • Gastrointestinal Hemorrhage / diagnosis*
  • Gastrointestinal Hemorrhage / genetics
  • Gastrointestinal Hemorrhage / pathology
  • Gastrointestinal Hemorrhage / surgery
  • Humans
  • Infant
  • Infant, Newborn
  • Intestinal Volvulus / diagnosis*
  • Intestinal Volvulus / genetics
  • Intestinal Volvulus / pathology
  • Intestinal Volvulus / surgery
  • Intussusception / diagnosis*
  • Intussusception / genetics
  • Intussusception / pathology
  • Intussusception / surgery
  • Meckel Diverticulum / diagnosis*
  • Meckel Diverticulum / genetics
  • Meckel Diverticulum / pathology
  • Meckel Diverticulum / surgery
  • Trisomy / diagnosis*
  • Trisomy / genetics
  • Trisomy / pathology
  • Trisomy 18 Syndrome