[A colo-colic invagination on the basis of MutYH-associated polyposis in a boy aged 14].
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.
Schrier
J C M
JC
Flevoziekenhuis, afd. Chirurgie, Hospitaalweg 1, 1315 RA Almere.
Ouwehand
F
F
Aronson
D C
DC
Booij
K A C
KA
Benninga
M A
MA
Verbeek
P C M
PC
D015746:Abdominal Pain / Q000209:etiology; D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D000293:Adolescent; D003108:Colonic Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D045647:DNA Glycosylases / Q000235:genetics*; D003967:Diarrhea / Q000209:etiology; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D007443:Intussusception / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D008297:Male; D010375:Pedigree; D014839:Vomiting / Q000209:etiology
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase