title: Hyperplasia of the myenteric plexus. Its association with early infantile megacolon and neurofibromatosis.
abstract: 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.
mesh_terms: D006801:Humans; D006965:Hyperplasia; D007231:Infant, Newborn; D008297:Male; D008531:Megacolon / Q000150:complications*; D009197:Myenteric Plexus / Q000473:pathology*; D009456:Neurofibromatosis 1 / Q000150:complications*; D009384:Paraneoplastic Endocrine Syndromes / Q000473:pathology; D012878:Skin Neoplasms / Q000150:complications*