Biopsy Diagnosis of Hirschsprung's Disease Using a Single Excisional Biopsy Based on the Anorectal Line

Topic overview

Key takeaways

• Single excisional biopsy just above the anorectal line accurately diagnoses normoganglionosis (47%) and aganglionosis (47%) in suspected HD.
• Hypoganglionosis (5.6% of cases) requires second-level biopsy to distinguish physiologic from pathologic variants requiring pull-through.
• Pathologic hypoganglionosis shows colon caliber change and severe obstructive symptoms, warranting definitive surgical intervention.
• The anorectal line serves as an objective anatomic landmark, eliminating need for routine two-level biopsies in most HD diagnostic workups.
• Conservative management is appropriate for physiologic hypoganglionosis with normal second-level biopsy; all achieved regular defecation.

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