Adult segmental Hirschsprung disease

Area of Science:

• Gastroenterology
• Colorectal Surgery
• Pediatric Surgery (in adult context)

Background:

• Hirschsprung disease (HD) is a congenital disorder characterized by the absence of ganglion cells in the distal bowel.
• While typically diagnosed in infancy, rare adult presentations occur, often with atypical or segmental involvement.
• Refractory constipation in adults can be a challenging diagnostic dilemma.

Observation:

• A 37-year-old male presented with a 20-year history of severe, refractory constipation requiring frequent enemas.
• Barium enema revealed an 8 cm stenotic segment in the rectosigmoid colon with proximal dilation, sparing the distal rectum.
• This presentation suggested a rare, adult-onset, segmental form of Hirschsprung disease.

Findings:

• Surgical resection of the identified 8 cm rectosigmoid stenotic segment was performed.
• Post-operatively, the patient experienced complete resolution of constipation.
• One-year follow-up confirmed normal defecation without the need for laxatives or enemas.

Implications:

• This case highlights that Hirschsprung disease, though uncommon, should be considered in adult patients with chronic, refractory constipation.
• Segmental aganglionosis can present in adulthood and be successfully treated with surgical intervention.
• Early diagnosis and surgical management can significantly improve quality of life for adults with atypical HD.