Neonatology pp 1345-1353 | Cite as

Hirschsprung’s Disease in Newborns

  • Girolamo MattioliEmail author
  • Maria Grazia Faticato
  • Alessio Pini Prato
  • Vincenzo Jasonni
Reference work entry


Hirschsprung’s disease, first described by Harald Hirschsprung in 1886, is one of the most common causes of intestinal obstruction in the newborn.

The disease occurs in roughly 1 in 5000 live births with a strong male preponderance and results as a consequence of abnormal migration of neural crest-derived neuroblasts that determines congenital absence of intestinal intramural ganglia within the enteric nervous system (ENS) with variable distal bowel involvement.

Symptoms range from neonatal intestinal obstruction to chronic progressive constipation in older children; a common severe complication presenting in many patients is enterocolitis.

The gold standard for the diagnosis of Hirschsprung is rectal suction biopsy.

The treatment is surgical and involves removing the aganglionic bowel and reconstructing the intestinal tract by bringing the normally innervated bowel down to the anus.


Hirschsprung’s disease Neonatal intestinal obstruction Congenital megacolon Enterocolitis 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Girolamo Mattioli
    • 1
    • 2
    Email author
  • Maria Grazia Faticato
    • 1
    • 2
  • Alessio Pini Prato
    • 2
  • Vincenzo Jasonni
    • 1
    • 2
  1. 1.Department of Pediatric SurgeryUniversity of GenoaGenoaItaly
  2. 2.Giannina Gaslini InstituteGenoaItaly

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