Hirschsprung disease

Overview & Definition

Picture a full-term baby boy born after an uncomplicated pregnancy. He feeds well for the first day, but by 48 hours he has not passed any meconium. His abdomen is becoming full and tight. That single delayed milestone, meconium not passed within 48 hours of birth, is the signature that turns a well-looking neonate into a child you must investigate for Hirschsprung disease. [1] [6]

Hirschsprung disease is a congenital disorder in which a variable length of the distal bowel lacks enteric ganglion cells. The affected segment, usually the rectosigmoid colon, cannot relax and cannot push stool onward, so it behaves like a fixed obstruction. Stool and gas pile up behind it, and the proximal bowel dilates. The disease takes its name from Harald Hirschsprung, the Danish physician who described two infants with megacolon in 1887, though the absence of ganglion cells that defines it was not understood until the mid-twentieth century. [1] [12]

The practical consequence is that Hirschsprung disease sits squarely between two common clinical scenarios: the neonate with low intestinal obstruction and delayed meconium, and the older child with chronic constipation that does not respond to standard laxatives. In both settings the diagnosis is easy to miss, and the consequences of missing it are serious. The leading cause of death is not the obstruction itself but Hirschsprung-associated enterocolitis, a fulminant colitis that can strike before or after surgery. [2] [3]

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1. [1]Kyrklund K; Sloots CEJ; de Blaauw I; et al ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis, 2020.PMID 32586397
2. [2]Gosain A; Frykman PK; Cowles RA; et al Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int, 2017.PMID 28154902
3. [3]Ziogas IA; Mylonas KS; Tsoucala S; et al Hirschsprung-associated enterocolitis: a comprehensive review. World J Pediatr Surg, 2024.PMID 39410939
4. [4]Lewit RA; Svetanoff WJ; Lopez JJ; et al Current understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatment. Semin Pediatr Surg, 2022.PMID 35690459
5. [5]Green N; Cromie W; Griffiths DM; et al Rectal suction biopsy versus incisional rectal biopsy in the diagnosis of Hirschsprung disease. Pediatr Surg Int, 2022.PMID 36171348
6. [6]Allen AR; Azmy SE; Munro FD; et al Accuracy of Suction Rectal Biopsy for Diagnosis of Hirschsprung's Disease in Neonates. Eur J Pediatr Surg, 2019.PMID 30068006
7. [7]Westfal ML; Hakim J; Chougule A; et al Optimal timing for Soave primary pull-through in short-segment Hirschsprung disease: A meta-analysis. J Pediatr Surg, 2022.PMID 34330420
8. [8]Tomuschat C; Zimmer J; Puri P Laparoscopic-assisted pull-through operation for Hirschsprung's disease: a systematic review and meta-analysis. Pediatr Surg Int, 2016.PMID 27369964
9. [9]Davidson JR; Quan A; Batey M; et al Comparative cohort study of Duhamel and endorectal pull-through for Hirschsprung's disease. BJS Open, 2022.PMID 35143630
10. [10]Haikal Z; Soriano MM; Otero N; et al Accuracy of transition zone in contrast enema to predict intraoperative aganglionosis level in patients with Hirschsprung disease. BMC Res Notes, 2020.PMID 32098631
11. [11]Drissi F; Faure C; Cargill G; et al Long-term Outcome of Hirschsprung Disease: Impact on Quality of Life and Social Condition at Adult Age. Dis Colon Rectum, 2019.PMID 30807458
12. [12]Amiel J; Sproat-Emison E; Garcia-Barcelo M; et al Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet, 2008.PMID 17965226