Adult Hirschsprung's disease

Area of Science:

• Gastroenterology and Colorectal Surgery
• Pediatric Surgery (in adult presentation)

Background:

• Hirschsprung's disease is typically a congenital condition affecting newborns, but adult cases present unique diagnostic challenges.
• Chronic constipation is the hallmark symptom in nearly all adult patients diagnosed with Hirschsprung's disease.

Observation:

• Barium enema reveals a narrowed segment with proximal dilation in 83% of adult Hirschsprung's disease cases.
• A significant minority (14%) of patients present with a dilated colon without a discernible narrowed segment.
• Anal manometry can aid diagnosis by demonstrating the absence of the normal anorectal inhibitory reflex.

Findings:

• Definitive diagnosis requires histological confirmation: the absence of ganglion cells in the colonic biopsy.
• While total colonic aganglionosis is exceptionally rare in adults, it has been reported.
• The study reviews two new cases and 47 previously reported adult cases of Hirschsprung's disease.

Implications:

• Increased clinical suspicion for adult Hirschsprung's disease is warranted in patients with chronic constipation and suggestive imaging.
• Accurate diagnosis through imaging and biopsy is essential for appropriate management and improved patient outcomes.
• Understanding the varied presentations of adult Hirschsprung's disease aids in earlier detection and intervention.