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Am J Surg Pathol. 1984 Jul;8(7):515-20.

Familial ganglioneuromatous polyposis of the large bowel. Report of a family with associated juvenile polyposis.


The unique familial occurrence of polypoid intestinal ganglioneuromatosis of the large bowel is reported. The lesions affected a 38-year-old father and three children aged 14, 12, and 10 years. In these cases, extensive diffuse and polypoid proliferation of nerve fibers and ganglion cells within the colonic mucosa was associated with pronounced epithelial changes resembling juvenile polyposis. None of the patients had any clinical evidence of the mucosal neuroma syndrome or Von Recklinghausen's neurofibromatosis, conditions in which intestinal ganglioneuromatosis can occur. The question of whether the juvenile-type polyps are hamartomatous or whether they represent a reactive process is addressed.

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