Pediatric Surgery pp 1045-1058 | Cite as

Variants of Hirschsprung Disease

  • Prem PuriEmail author
  • Jan-Hendrik Gosemann
  • Hiroki Nakamura
Reference work entry


Variants of Hirschsprung disease (HD) are a group of conditions that clinically resemble HD despite the presence of ganglion cells in rectal suction biopsies. The characterization and differentiation of various entities is mainly based on histological and immunohistochemical findings of biopsies from patients with functional intestinal obstruction.

Over the last decades, several groups have focused on the investigation and definition of variant HD such as intestinal neuronal dysplasia, isolated hyperganglionosis, internal anal sphincter achalasia, immature ganglia, and smooth muscle cell disorders such as megacystis microcolon intestinal hypoperistalsis syndrome. However, definition of the above-mentioned entities remains a controversial issue and research is ongoing to standardize diagnostic criteria, specific therapy, and outcome criteria.

This chapter summarizes the current knowledge of the above-mentioned entities of variant HD.


Hirschsprung’s disease Intestinal neuronal dysplasia Hypoganglionosis Internal sphincter achalasia Megacystis microcolon intestinal hypoperistalsis syndrome 


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2020

Authors and Affiliations

  • Prem Puri
    • 1
    • 2
    Email author
  • Jan-Hendrik Gosemann
    • 3
  • Hiroki Nakamura
    • 4
    • 5
  1. 1.Department of Pediatric SurgeryBeacon HospitalDublinIreland
  2. 2.School of Medicine and Medical Science and Conway Institute of Biomedical ResearchUniversity College DublinDublinIreland
  3. 3.Department of Pediatric SurgeryUniversity of LeipzigLeipzigGermany
  4. 4.National Children’s Research CentreOur Lady’s Children’s HospitalDublinIreland
  5. 5.Department Pediatric General and Urogenital SurgeryJuntendo University School of MedicineTokyoJapan

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