[Complete rectal prolapse in a patient with Hirschsprung disease: a clinical case]

G Candela1, M Grillo, M Campione

  • 1Seconda Università degli Studi di Napoli.

Il Giornale Di Chirurgia
|December 11, 2003
PubMed

Insights

Hirschsprung disease (HD), a rare congenital condition, can manifest in adults. This case highlights successful surgical treatment for a young female with HD and rectal prolapse, leading to symptom remission.

Area of Science:

  • Gastroenterology
  • Pediatric Surgery
  • Genetics

Background:

  • Hirschsprung disease (HD) is a rare congenital disorder characterized by the absence of ganglion cells in the distal bowel.
  • While typically diagnosed in infancy, HD can present in adulthood with varied symptoms.
  • Associated genetic mutations can lead to diverse pathologies and malformations.

Observation:

  • A young female presented with chronic constipation, tenesmus, and abdominal pain.
  • Physical examination revealed complete rectal prolapse with mucosal ulcerations.
  • Diagnostic studies confirmed Hirschsprung disease.

Findings:

  • The patient underwent surgical correction using the Frykman and Goldberg technique.
  • Postoperative follow-up showed complete symptom remission.
  • Rectoanal inhibitory reflex normalized after surgery.

Implications:

  • The study suggests ultrashort HD may predispose individuals to rectal prolapse due to subocclusive phenomena and straining.
  • Early diagnosis and surgical intervention are crucial for managing HD and associated complications.
  • This case underscores the importance of considering HD in adult patients with chronic constipation and rectal prolapse.

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