[A colo-colic invagination on the basis of MutYH-associated polyposis in a boy aged 14]. / Een colocolische invaginatie op basis van MutYH-geassocieerde polyposis coli bij een jongen van 14 jaar.
Ned Tijdschr Geneeskd
; 151(28): 1589-92, 2007 Jul 14.
Article
en Nl
| MEDLINE
| ID: mdl-17715770
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.
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Bases de datos:
MEDLINE
Asunto principal:
Enfermedades del Colon
/
Poliposis Adenomatosa del Colon
/
ADN Glicosilasas
/
Intususcepción
Tipo de estudio:
Etiology_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Humans
/
Male
Idioma:
Nl
Revista:
Ned Tijdschr Geneeskd
Año:
2007
Tipo del documento:
Article