Diagnosis of Hirschsprung Disease

Pediatr Dev Pathol. 2020 Jan-Feb;23(1):8-22. doi: 10.1177/1093526619892351. Epub 2019 Dec 2.


Diagnosis or exclusion of Hirschsprung disease (HSCR) is a frequent exercise in any pediatric hospital. Although HSCR may present at different ages and with varied clinical findings, the most common presentation is a neonate with severe constipation or signs of intestinal obstruction. A variety of diagnostic tests including contrast enema and anorectal manometry may be used as diagnostic screens, but diagnosis ultimately rests upon histopathological evaluation of a rectal biopsy. For the experienced pathologist, conventional hematoxylin-and-eosin-stained sections often suffice to exclude HSCR or establish the diagnosis. However, ancillary diagnostic tests such as acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary and extremely helpful in some cases. In this Perspectives article, we review the clinical and pathological features of HSCR, highlight those that are found in most patients, and discuss how to address particularly challenging aspects of the diagnostic workup.

Keywords: Hirschsprung disease; acetylcholinesterase; anorectal manometry; calretinin; choline transporter; diagnosis; immunohistochemistry; rectal biopsy.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Biomarkers / analysis
  • Biopsy
  • Child
  • Child, Preschool
  • Colon / abnormalities*
  • Colon / chemistry
  • Colon / pathology
  • Diagnostic Techniques, Digestive System*
  • Hirschsprung Disease / diagnosis*
  • Hirschsprung Disease / metabolism
  • Hirschsprung Disease / pathology
  • Humans
  • Immunohistochemistry
  • Infant
  • Infant, Newborn
  • Predictive Value of Tests
  • Rectum / abnormalities*
  • Rectum / chemistry
  • Rectum / pathology
  • Staining and Labeling


  • Biomarkers