The familial syndromes of intestinal pseudoobstruction

Ten reported families with chronic intestinal pseudoobstruction were reviewed. Although clinical manifestations and gastrointestinal contrast roentgenograms are similar in these families, the pathology and inheritance are quite different. Five families have degeneration and fibrosis of the gastrointestinal tract and urinary bladder, three have normal intestinal morphology, and one has degeneration of the myenteric plexus throughout the gastrointestinal tract. Four families are consistent with dominant inheritance, three are consistent with X-linked dominant transmission, and three are compatible with recessive inheritance. Patients in these families have a wide spectrum and degree of chronic and/or intermittent gastrointestinal symptoms. As many as 20% of the family cases discovered are asymptomatic. Operative procedures to drain or resect short dilated intestinal segments may help to relieve symptoms.