Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus. Familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy.
In 3 infants functional intestinal obstruction, associated with a short small intestine, malrotation, and pyloric hypertrophy, was shown to be due to failure of development of the argyrophil myenteric plexus, with the absence of ongoing peristalsis. 4 infants with similar clinical features have been described previously, and there is evidence for an autosomal recessive mode of inheritance of this syndrome.
D005260:Female; D005769:Gastrointestinal Motility; D006801:Humans; D006984:Hypertrophy; D007082:Ileum / Q000294:innervation; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000235:genetics*; D007421:Intestine, Small / Q000002:abnormalities*; D008297:Male; D009197:Myenteric Plexus / Q000002:abnormalities* / Q000473:pathology; D009474:Neurons; D011707:Pyloric Stenosis / Q000235:genetics*; D011708:Pylorus / Q000294:innervation; D013577:Syndrome