Rectal biopsy: is it really necessary in anorectal malformations?

Area of Science:

• Pediatric Surgery
• Gastroenterology
• Pathology

Background:

• Hirschsprung disease (HD) and anorectal malformation (ARM) are congenital gastrointestinal anomalies.
• The coexistence of HD and ARM is infrequently reported.
• Current surgical practice often includes histological examination for ganglia in ARM patients.

Purpose of the Study:

• To investigate the actual incidence of HD in patients with ARM.
• To evaluate the necessity of routine histological examination for ganglia in ARM specimens.
• To prevent potential misdiagnosis and overtreatment in ARM patients.

Main Methods:

• Retrospective analysis of rectal specimens from 67 ARM patients over 8 years.
• Histopathological re-evaluation of 47 specimens for the presence and structure of ganglia by two blinded pathologists.
• Correlation of histopathological findings with clinical and radiological data.

Main Results:

• Of 47 ARM specimens analyzed, 51.1% showed normal ganglia, 29.7% had aganglionosis, and 19.1% were inconclusive.
• No aganglionic specimens exhibited other histological features of HD.
• Long-term follow-up revealed no HD-specific complications in any patient, regardless of ganglionic status.

Conclusions:

• The co-occurrence of ARM and HD is exceedingly rare.
• Routine search for ganglia in ARM specimens is not recommended.
• Discouraging this practice can help avoid misdiagnosis and unnecessary interventions in ARM management.