[A colo-colic invagination on the basis of MutYH-associated polyposis in a boy aged 14]

Ned Tijdschr Geneeskd. 2007 Jul 14;151(28):1589-92.
[Article in Dutch]

Abstract

A 14-year-old boy presented with acute abdominal pain, vomiting and diarrhoea. Colo-colic intussusception was diagnosed by means of a colonic contrast X-ray. The intussusception was successfully reduced during this procedure. Hundreds of polyps were seen throughout the entire colon. Genetic research showed a mutation of the MutYH gene. Proctocolectomy with ileoanal pouch anastomosis was carried out. The pathology specimen showed an intramucosal carcinoma and multiple adenomas. MutYH-associated polyposis coli is an autosomal recessive disease that occurs as a result of a mutation in the MutYH gene. This will lead to polyposis coli. An intussusception is a rarely seen symptom. Patients need preventive surgical treatment because of the high risk developing a colorectal carcinoma.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Abdominal Pain / etiology
  • Adenomatous Polyposis Coli / complications
  • Adenomatous Polyposis Coli / diagnosis*
  • Adenomatous Polyposis Coli / genetics
  • Adenomatous Polyposis Coli / surgery
  • Adolescent
  • Colonic Diseases / complications
  • Colonic Diseases / diagnosis*
  • Colonic Diseases / genetics
  • Colonic Diseases / surgery
  • DNA Glycosylases / genetics*
  • Diarrhea / etiology
  • Genetic Predisposition to Disease
  • Germ-Line Mutation
  • Humans
  • Intussusception / complications
  • Intussusception / diagnosis*
  • Intussusception / genetics
  • Intussusception / surgery
  • Male
  • Pedigree
  • Vomiting / etiology

Substances

  • DNA Glycosylases
  • mutY adenine glycosylase