Mendelsohn G, Diamond M P
Am J Surg Pathol. 1984 Jul;8(7):515-20. doi: 10.1097/00000478-198407000-00003.
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.
本文报道了大肠息肉样肠神经节瘤病独特的家族性发病情况。病变累及一名38岁的父亲和三个分别为14岁、12岁和10岁的孩子。在这些病例中，结肠黏膜内神经纤维和神经节细胞广泛弥漫性及息肉样增生，并伴有类似幼年性息肉病的明显上皮改变。所有患者均无黏膜神经瘤综合征或冯雷克林霍增氏神经纤维瘤病的临床证据，而肠神经节瘤病可发生于这些疾病中。文中探讨了幼年型息肉是错构瘤性的还是代表一种反应性过程的问题。
