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Hirschsprung's disease - Postsurgical intestinal dysmotility.

Mariana Tresoldi das Neves Romaneli1, Antonio Fernando Ribeiro1, Joaquim Murray Bustorff-Silva1

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Summary

This case study details a rare form of Hirschsprung's disease (total colonic aganglionosis) in an infant, highlighting challenges in surgical management and persistent intestinal obstruction. Reduced interstitial cells of Cajal may explain the condition.

Keywords:
Doença de HirschsprungGastrointestinal motilityHirschsprung's diseaseInfantLactenteMotilidade gastrointestinal

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Area of Science:

  • Pediatric Surgery
  • Gastroenterology
  • Developmental Biology

Background:

  • Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
  • Total colonic aganglionosis is a rare and severe form, presenting significant diagnostic and therapeutic challenges.

Observation:

  • A two-month-old infant diagnosed with total colonic aganglionosis experienced enterocolitis, hypovolemic shock, and malnutrition.
  • Following surgical resection of the aganglionic segment, the infant failed to regain intestinal motor function, necessitating total parenteral nutrition.
  • Postoperative analysis revealed normal ganglion cells in the ileum but a reduced number of interstitial cells of Cajal in proximal bowel segments.

Findings:

  • Total colonic aganglionosis presents unique clinical and surgical features distinct from classic Hirschsprung's disease.
  • Postoperative intestinal dysmotility can lead to irreversible functional intestinal obstruction and long-term morbidity.
  • A numerical reduction or altered neural connections of interstitial cells of Cajal may underlie the pathophysiology of this condition.

Implications:

  • Management of total colonic aganglionosis requires specialized approaches due to its complexity and potential for severe complications.
  • Understanding the role of interstitial cells of Cajal is crucial for developing targeted therapies for functional intestinal obstruction in Hirschsprung's disease.
  • This case underscores the importance of considering alternative pathogenetic mechanisms beyond simple aganglionosis in severe congenital intestinal motility disorders.