Paeds · gastroenterology-hepatology-and-nutrition
Hirschsprung disease
Also known as Congenital aganglionic megacolon · Aganglionosis · Hirschsprung-associated enterocolitis · Suction rectal biopsy · Soave pull-through · Swenson pull-through · Duhamel pull-through · Total colonic aganglionosis · RET proto-oncogene · Transition zone
Fellowship guide to Hirschsprung disease, built around the rule that a term neonate who has not passed meconium within 48 hours has a functional obstruction until proven otherwise. The page covers the embryology of failed neural crest cell migration that leaves a non-relaxing aganglionic distal bowel, the suction rectal biopsy with calretinin staining that confirms the diagnosis, the levelling biopsy and three pull-through operations (Swenson, Soave, Duhamel), and the recognition and aggressive treatment of Hirschsprung-associated enterocolitis as the leading cause of death.
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Red flags
- A term neonate who has not passed meconium within 48 hours of birth has Hirschsprung disease until proven otherwise, and needs urgent surgical assessment and decompression
- Fever, abdominal distension and explosive foul-smelling diarrhoea in any child with known or suspected Hirschsprung disease is Hirschsprung-associated enterocolitis until proven otherwise, and is the leading cause of death in this condition
- A child with Hirschsprung disease who looks well with a soft abdomen can still develop fulminant enterocolitis within hours, so abdominal distension with lethargy or poor feeding demands immediate assessment
- Bilious vomiting with abdominal distension and a tight empty rectum on digital examination in a neonate signals complete obstruction and may indicate total colonic aganglionosis or an associated atresia
- A child with chronic constipation from birth, failure to thrive, an empty rectum on examination and no soiling is not a simple functional constipation case and needs a rectal biopsy
Life stages
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- Delayed passage of meconium as a red flag for neonatal obstruction
- Recognition of Hirschsprung disease as a cause of chronic constipation
- Initial stabilisation of the neonate with bowel obstruction
- Diagnosis and management of Hirschsprung disease from neonate to adolescent
- Interpretation of rectal biopsy and contrast enema findings
- Hirschsprung-associated enterocolitis recognition and treatment
- The neonate with delayed meconium and abdominal distension
- Hirschsprung-associated enterocolitis as a surgical emergency
- Fluid and electrolyte management of the obstructed child
- Long case: the child with Hirschsprung disease and postoperative bowel dysfunction
- Short case: abdominal examination of the infant with distension
- Gastroenterology and surgery: Hirschsprung disease and congenital obstruction
- Neonatal surgery: recognition and stabilisation
- Hirschsprung disease: pathophysiology, diagnosis and management
- Causes of delayed passage of meconium
- Assessment of the infant with abdominal distension and constipation
- Congenital aganglionic megacolon (Hirschsprung disease)
- Delayed passage of meconium and neonatal obstruction
- Hirschsprung-associated enterocolitis
- Patient Care: diagnosis and management of congenital bowel obstruction in children
- Medical Expert: Hirschsprung disease in children
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]
References12ShowHide
- [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]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]Ziogas IA; Mylonas KS; Tsoucala S; et al Hirschsprung-associated enterocolitis: a comprehensive review. World J Pediatr Surg, 2024.PMID 39410939
- [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]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]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]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]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]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]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]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]Amiel J; Sproat-Emison E; Garcia-Barcelo M; et al Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet, 2008.PMID 17965226