source: Journal of clinical oncology

year: 2011

authors: Jan H. von der Thüsen, Marianne D. van de Wetering, Anneke M. Westermann, Daniëlle A. M. Heideman, Erik Thunnissen

Case Report

A 14-year-old male patient of consanguineous descent presented initially at our hospital with a history of colocolic invagination resulting from multiple colonic polyps (> 500). He also had a history of normocytic anemia, multiple hypopigmented and café au lait macules, genodermatotic malformations of the distal extremities, and a multinodular goiter. With the aid of clinical genetic analysis, he was diagnosed withMUTYH-associated polyposis (MAP), with a homozygous mutation of C.1428-1430delGGA in exon 14 of the MUTYH gene. He was also known to have alpha thalassaemia, with a quadruple alpha phenotype.