Management of Anorectal Malformations and Hirschsprung's Disease

Congenital anorectal malformations (ARMs) and Hirschsprung’s disease (HD) represent distinct yet sometimes overlapping challenges in paediatric colorectal care. ARMs encompass a spectrum of structural defects of the distal anus and rectum, often associated with urogenital anomalies, requiring meticulous preoperative assessment, classification and staged surgical correction. The posterior sagittal approach and its refinements have established a standard for definitive repair, with long-term bowel and urinary function dependent on anatomy, associated anomalies and postoperative rehabilitation. Hirschsprung’s disease, characterised by aganglionosis of the distal bowel, presents with obstructive symptoms and risk of life-threatening enterocolitis. Management centres on timely diagnosis by histopathology and radiology, followed by pull-through surgery to restore continuity and function. Multidisciplinary teams now integrate genetics, neurointestinal physiology and psychosocial support to optimise outcomes. Across both conditions, emphasis has shifted towards standardised classification systems, evidence-based guidelines for perioperative care, structured bowel management programmes and lifelong surveillance of quality of life and continence.

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Management of Anorectal Malformations and Hirschsprung's Disease publication trend

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Technical terms

Anorectal malformations (ARMs): Congenital defects affecting the position or continuity of the anus and rectum, often requiring staged surgical correction.

Hirschsprung’s disease (HD): A congenital absence of enteric ganglion cells in the distal colon, leading to functional obstruction and risk of enterocolitis.

Posterior sagittal anorectoplasty (PSARP): A surgical technique to correct ARMs by dissecting through the sphincter complex for direct visualisation and reconstruction of the anorectum.

Pull-through procedure: Definitive surgery for HD, in which the aganglionic segment is resected and the proximal ganglionated bowel is anastomosed to the anus.

Enterocolitis: Inflammation of the small and large intestine, a serious postoperative complication in HD, characterised by fever, abdominal distension and diarrhoea.

References

1. ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease. Orphanet Journal of Rare Diseases (2020).
2. Anorectal malformations. Orphanet Journal of Rare Diseases (2007).
3. European consensus meeting of ARM-Net members concerning diagnosis and early management of newborns with anorectal malformations. Techniques in Coloproctology (2015).
4. Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis. BMC Gastroenterology (2020).