Total intestinal aganglionosis

Donna A. Caniano, Herbert S. Ormsbee, William Polito, Chen Chih Sun, Frank C. Barone, J. Laurence Hill

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


TOTAL INTESTINAL AGANGLIONOSIS is a rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum. A neonate with this extreme form of Hirschsprung's disease is presented with a review of 12 previously reported cases. Smooth muscle strips from this infant's gastrointestinal tract demonstrated viable cholinergic receptors, absence of intrinsic neuronal innervation, and colonic contractile activity to the purported peptidergic neurotransmitter cholecystokinin. Four aspects of total intestinal aganglionosis are noteworthy: (1) one-third of patients presented between four and eight days of age after passing meconium on the first day of life; (2) at laparotomy, no intestinal distention, obstruction, or transition zone was evident; (3) hypertrophic nerve fibers seen in classic Hirschsprung's disease were absent in one-quarter of patients; and (4) a high incidence of affected siblings occurred in the previously reported cases. This form of Hirschsprung's disease may represent a distinct entity with autosomal recessive inheritance and significant risk for recurrence.

Original languageEnglish (US)
Pages (from-to)456-460
Number of pages5
JournalJournal of pediatric surgery
Issue number4
StatePublished - Aug 1985


  • Hirschsprung's disease
  • Total intestinal aganglionosis

ASJC Scopus subject areas

  • Surgery
  • Pediatrics, Perinatology, and Child Health


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