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  • Title: Early detection of adenomatous polyposis coli in Gardner's syndrome.
    Author: Naylor EW, Lebenthal E.
    Journal: Pediatrics; 1979 Feb; 63(2):222-7. PubMed ID: 440812.
    Abstract:
    Gardner's syndrome, an autosomal dominant disorder, consists of multiple polyposis of the colon associated with various soft- and hard-tissue tumors. The appearance of adenomatous hyperplasia and polyposis in at-risk patients before adolescence has not been full appreciated. Four preadolescent children from a kindred with Gardner's syndrome were examined by use of colonoscopy and mucosal biopsy. In three children (18 months, 6 years, and 9 years old) adenomatous hyperplasia or polyposis was found. The colon of the fourth child (3 years old) was normal. The three affected children were asymptomatic. The youngest had a barium enema and results were normal. The oldest child had polyps. Biopsies revealed focal atypical hyperplasia of the glands with pseudostratification of the epithelial cells, frequent mitotic figures, and the absence of goblet cells. More severe manifestations were noted in the splenic flexure than in the sigmoid flexure or rectum. The youngest patient showed early adenomatous hyperplasia characterized by a marked reduction of the goblet cells, especially in the surface epithelium. Colonoscopy and mucosal biopsies are mandatory in at-risk children. By deferring colonic examination until adolescence, a patient is placed at risk for malignant degeneration of the adenomatous tumor.
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