Hirschsprung's disease in young adults

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Genetics

Background:

• Hirschsprung's disease (HSCR) is a congenital condition characterized by the absence of ganglion cells in the distal bowel.
• HSCR is rare in young adults, presenting unique management challenges due to proximal colonic dilatation and hypertrophy.

Observation:

• Diagnosis involves barium enema, rectal biopsy (suction or full-thickness), and anal manometry.
• Eight young adult patients with HSCR were managed using a two-stage surgical approach.

Findings:

• The initial stage involved a sigmoid colostomy with a defunctionalized stoma, allowing distal colon cleansing and proximal colon decompression.
• The proximal colon typically normalized in caliber within 2 to 6 months.
• Reconstruction using Duhamel or Soave procedures yielded good results, with Duhamel preferred for significant rectal segment discrepancies.

Implications:

• A two-stage surgical approach with preliminary colostomy is effective for managing Hirschsprung's disease in young adults.
• This management strategy facilitates subsequent pull-through procedures and improves patient outcomes.
• Early diagnosis and appropriate surgical intervention are crucial for long-term success in HSCR management.