• An infant with cutaneous criteria for neurofibromatosis had hyperplasia of the intestinal myenteric plexus and a clinical presentation mimicking Hirschsprung's disease. Many of his phenotypic features are also found in multiple endocrine neoplasia type IIb, a condition in which hyperplasia of the myenteric plexus is common. This case illustrates the overlapping nature of neural crest-derived conditions and the variable presentation of megacolon (ganglionic or aganglionic) in infancy.
(Am J Dis Child 1982;136:852-854)
Saul RA, Sturner RA, Burger PC. Hyperplasia of the Myenteric Plexus: Its Association With Early Infantile Megacolon and Neurofibromatosis. Am J Dis Child. 1982;136(9):852–854. doi:10.1001/archpedi.1982.03970450094023
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