| Autor: |
Schrier JC; Flevoziekenhuis, afd. Chirurgie, Hospitaalweg 1, 1315 RA Almere., Ouwehand F, Aronson DC, Booij KA, Benninga MA, Verbeek PC |
| Jazyk: |
Dutch; Flemish |
| Zdroj: |
Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2007 Jul 14; Vol. 151 (28), pp. 1589-92. |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
