Examinations for Diagnosis

  • Naoki ShimojimaEmail author


Various diagnostic methods for Hirschsprung’s disease are available. In radiography, a sudden widening of the caliber at the transition zone, called a “caliber change,” is a very important finding for diagnosis of Hirschsprung’s disease as well as for predicting the length of bowel to be surgically resected. A motility study for the recto-anal inhibitory reflex is also an important diagnostic procedure. High-resolution manometry is a novel but increasingly popular method of measuring the intraluminal pressure activity. Confocal laser endomicroscopy is the newest diagnostic tool and is capable of visualizing the enteric nervous system and may provide an alternative to intraoperative histopathological diagnosis in the near future. We herein describe diagnostic examination methods, radiographic procedures, and motility studies currently available for diagnosing and surgically treating Hirschsprung’s disease.


  1. 1.
    Suita S, Taguchi T, Ieiri S, Nakatsuji T. Hirschsprung’s disease in Japan: analysis of 3852 patients based on a nationwide survey in 30 years. J Pediatr Surg. 2005;40:197–201.; discussion 201–192. Scholar
  2. 2.
    Rosenfield NS, et al. Hirschsprung disease: accuracy of the barium enema examination. Radiology. 1984;150:393–400. Scholar
  3. 3.
    Stranzinger E, DiPietro MA, Teitelbaum DH, Strouse PJ. Imaging of total colonic Hirschsprung disease. Pediatr Radiol. 2008;38:1162–70. Scholar
  4. 4.
    Taxman TL, Yulish BS, Rothstein FC. How useful is the barium enema in the diagnosis of infantile Hirschsprung’s disease? Am J Dis Child. 1986;140:881–4.PubMedGoogle Scholar
  5. 5.
    Sarin YK, Raj P, Thakkar N. Perils of total colonic aganglionosis presenting in neonatal age. J Neonat Surg. 2014;3:28.Google Scholar
  6. 6.
    Proctor ML, et al. Correlation between radiographic transition zone and level of aganglionosis in Hirschsprung’s disease: implications for surgical approach. J Pediatr Surg. 2003;38:775–8. Scholar
  7. 7.
    Tang YF, et al. High-resolution anorectal manometry in newborns: normative values and diagnostic utility in Hirschsprung disease. Neurogastroenterol Motil. 2014;26:1565–72. Scholar
  8. 8.
    Faverdin C, et al. Quantitative analysis of anorectal pressures in Hirschsprung’s disease. Dis Colon Rectum. 1981;24:422–7.CrossRefPubMedGoogle Scholar
  9. 9.
    Cusick EL, Buick RG. Injury to the common iliac artery during suction rectal biopsy. J Pediatr Surg. 1995;30:111–2.CrossRefPubMedGoogle Scholar
  10. 10.
    Rees BI, Azmy A, Nigam M, Lake BD. Complications of rectal suction biopsy. J Pediatr Surg. 1983;18:273–5.CrossRefPubMedGoogle Scholar
  11. 11.
    Low PS, et al. Accuracy of anorectal manometry in the diagnosis of Hirschsprung’s disease. J Pediatr Gastroenterol Nutr. 1989;9:342–6.CrossRefPubMedGoogle Scholar
  12. 12.
    Lewis NA, et al. Diagnosing Hirschsprung’s disease: increasing the odds of a positive rectal biopsy result. J Pediatr Surg. 2003;38:412–6.; discussion 412-416. Scholar
  13. 13.
    Morikawa Y, Donahoe PK, Hendren WH. Manometry and histochemistry in the diagnosis of Hirschsprung’s disease. Pediatrics. 1979;63:865–71.PubMedGoogle Scholar
  14. 14.
    de Lorijn F, Kremer LC, Reitsma JB, Benninga MA. Diagnostic tests in Hirschsprung disease: a systematic review. J Pediatr Gastroenterol Nutr. 2006;42:496–505. Scholar
  15. 15.
    Enriquez Zarabozo E, et al. Anorectal manometry in the neonatal diagnosis of Hirschsprung’s disease. Cir Pediatr. 2010;23:40–5.PubMedGoogle Scholar
  16. 16.
    Meunier P, Marechal JM, Mollard P. Accuracy of the manometric diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1978;13:411–5.CrossRefPubMedGoogle Scholar
  17. 17.
    Ito Y, Donahoe PK, Hendren WH. Maturation of the rectoanal response in premature and perinatal infants. J Pediatr Surg. 1977;12:477–82.CrossRefPubMedGoogle Scholar
  18. 18.
    Schuster MM. Clinical significance of motor disturbances of the enterocolonic segment. Am J Dig Dis. 1966;11:320–35.CrossRefPubMedGoogle Scholar
  19. 19.
    Heppell J, et al. Physiologic aspects of continence after colectomy, mucosal proctectomy, and endorectal ileo-anal anastomosis. Ann Surg. 1982;195:435–43.CrossRefPubMedPubMedCentralGoogle Scholar
  20. 20.
    Taylor BM, Beart RW Jr, Phillips SF. Longitudinal and radial variations of pressure in the human anal sphincter. Gastroenterology. 1984;86:693–7.PubMedGoogle Scholar
  21. 21.
    Rosenberg AJ, Vela AR. A new simplified technique for pediatric anorectal manometry. Pediatrics. 1983;71:240–5.PubMedGoogle Scholar
  22. 22.
    Seo M, et al. A high-resolution anorectal manometry parameter based on integrated pressurized volume: a study based on 204 male patients with constipation and 26 controls. Neurogastroenterol Motil. 2018;30:e13376. Scholar
  23. 23.
    Lee YY, Erdogan A, Yu S, Dewitt A, Rao SSC. Anorectal manometry in defecatory disorders: a comparative analysis of high-resolution pressure topography and waveform manometry. J Neurogastroenterol Motil. 2018;24:460–8. Scholar
  24. 24.
    Carrington EV, et al. Traditional measures of normal anal sphincter function using high-resolution anorectal manometry (HRAM) in 115 healthy volunteers. Neurogastroenterol Motil. 2014;26:625–35. Scholar
  25. 25.
    Lee YY, Erdogan A, Rao SS. High resolution and high definition anorectal manometry and pressure topography: diagnostic advance or a new kid on the block? Curr Gastroenterol Rep. 2013;15:360. Scholar
  26. 26.
    Wu JF, Lu CH, Yang CH, Tsai IJ. Diagnostic role of anal sphincter relaxation integral in high-resolution anorectal manometry for Hirschsprung disease in infants. J Pediatr. 2018;194:136–41.e132. Scholar
  27. 27.
    Sanduleanu S, et al. In vivo diagnosis and classification of colorectal neoplasia by chromoendoscopy-guided confocal laser endomicroscopy. Clin Gastroenterol Hepatol. 2010;8:371–8. Scholar
  28. 28.
    Kiesslich R, Goetz M, Vieth M, Galle PR, Neurath MF. Technology insight: confocal laser endoscopy for in vivo diagnosis of colorectal cancer. Nat Clin Pract Oncol. 2007;4:480–90. Scholar
  29. 29.
    Tontini GE, et al. Confocal laser endomicroscopy for the differential diagnosis of ulcerative colitis and Crohn’s disease: a pilot study. Endoscopy. 2015;47:437–43. Scholar
  30. 30.
    Kobayashi M, et al. Technical feasibility of visualizing myenteric plexus using confocal laser endomicroscopy. J Gastroenterol Hepatol. 2017;32:1604–10. Scholar

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© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of SurgeryTokyo Metropolitan Children’s Medical CenterFuchuJapan

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