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Total intestinal aganglionosis.

D A Caniano, H S Ormsbee, W Polito

    Journal of Pediatric Surgery
    |August 1, 1985
    PubMed
    Summary
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    Total intestinal aganglionosis, an extreme form of Hirschsprung's disease, is a fatal condition characterized by the absence of nerve ganglia throughout the entire gastrointestinal tract. This rare entity may have autosomal recessive inheritance, indicating a significant risk of recurrence in affected families.

    Area of Science:

    • Gastroenterology
    • Pediatric Surgery
    • Medical Genetics

    Background:

    • Total intestinal aganglionosis is a rare, uniformly fatal congenital disorder.
    • It represents an extreme form of Hirschsprung's disease, affecting the entire gastrointestinal tract from the duodenum to the rectum.
    • Understanding its distinct characteristics is crucial for diagnosis and genetic counseling.

    Observation:

    • A neonate with total intestinal aganglionosis presented with specific clinical and pathological findings.
    • Gastrointestinal smooth muscle strips showed viable cholinergic receptors but lacked intrinsic neuronal innervation.
    • Contractile activity was observed in response to cholecystokinin, a purported peptidergic neurotransmitter.

    Findings:

    • One-third of patients presented between 4-8 days of age after passing meconium.

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  • Laparotomy revealed no intestinal distention, obstruction, or transition zone.
  • Absence of hypertrophic nerve fibers was noted in 25% of patients, differing from classic Hirschsprung's disease.
  • A high incidence of affected siblings suggests a potential genetic basis.

    • Implications:

    • Total intestinal aganglionosis may be a distinct genetic entity.
    • Autosomal recessive inheritance is suspected, carrying a significant risk for recurrence.
    • Further research into the genetic and molecular mechanisms is warranted for improved understanding and potential therapeutic strategies.