Rectal Biopsy

  • Koichiro YoshimaruEmail author


A histopathological examination is essential for the diagnosis of Hirschsprung’s disease (HD), which is characterized by the absence of enteric ganglion cells in the affected segment. Because the aganglionic narrowed segment visually always includes the rectum, the biopsy of the distal rectum of patients suspected of having HD could reveal the presence or absence of ganglion cells. Full-thickness biopsy (FTB) with hematoxylin and eosin (HE) staining was initially performed, and rectal mucosal biopsy (RMB) combined with acetylcholinesterase (AChE) staining was introduced as a noninvasive technique later. Currently, FTB with HE staining; RMB with HE staining and immunostaining such as calretinin, S-100, and so on; and RMB with AChE staining are selected based on each institutional facility and preference. To avoid performing an inadequate biopsy, the precise understanding of the rectal anatomy is essential regardless of the technique. In this chapter, the introduction of the history, the anatomy, the indication, the techniques, and the complications of the rectal biopsy are conducted. The most important factor performing a biopsy is obtaining an enough size of samples with an adequate and consistent level.





Hirschsprung’s disease


Hematoxylin and eosin


Intestinal neuronal dysplasia type B


Rectal mucosal biopsy


Rectal punch biopsy


Rectal suction biopsy


  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.CrossRefGoogle Scholar
  2. 2.
    Dobbins WO III, Bill AH Jr. Diagnosis of Hirschsprung’s disease excluded by rectal suction biopsy. N Engl J Med. 1965;272:990–3.CrossRefGoogle Scholar
  3. 3.
    Swenson O, Fisher JH. Hirschsprung’s disease in the newborn. Arch Surg. 1959;79:987–93.CrossRefGoogle Scholar
  4. 4.
    Gherardi GJ. Pathology of the ganglionic-aganglionic junction in congenital megacolon. Arch Pathol. 1960;69:520–3.PubMedGoogle Scholar
  5. 5.
    Campbell PE, Noblett HR. Experience with rectal suction biopsy in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1969;4:410–5.CrossRefGoogle Scholar
  6. 6.
    Noblett HR. A rectal suction biopsy tube for use in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1969;4:406–9.CrossRefGoogle Scholar
  7. 7.
    Meier-Ruge W. Das megacolon: seine daignose und pathophysiolgie. Virchows Arch A Pathol Anat Histopathol. 1968;344:67–85.CrossRefGoogle Scholar
  8. 8.
    Meier-Ruge W, Lutterbeck PM, Herzog B, Morger R, Moser R, Schärli A. Acetylcholinesterase activity in suction biopsies of the rectum in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1972;7:11–7.CrossRefGoogle Scholar
  9. 9.
    Nakao M, Suita S, Taguchi T, Hirose R, Shima Y. Fourteen-year experience of acetylcholinesterase staining for rectal mucosal biopsy in neonatal Hirschsprung’s disease. J Pediatr Surg. 2001;36:1357–63.CrossRefGoogle Scholar
  10. 10.
    Friedmacher F, Puri P. Current practice patterns of rectal suction biopsy in the diagnostic work-up of Hirschsprung’s disease: results from an international survey. Pediatr Surg Int. 2016;32:717–22.CrossRefGoogle Scholar
  11. 11.
    Zani A, Eaton S, Morini F, Puri P, Rintala R, Heurn EV, Lukac M, Bagolan P, Kuebler JF, Friedmacher F, Wijnen R, Tovar JA, Hoellwarth ME, Pierro A, EUPSA Network Office. European Paediatric Surgeons’ Association Survey on the management of Hirschsprung disease. Eur J Pediatr Surg. 2017;27:96–101.CrossRefGoogle Scholar
  12. 12.
    Kapur RP. Practical pathology and genetics of Hirschsprung’s disease. Semin Pediatr Surg. 2009;18:212–23.CrossRefGoogle Scholar
  13. 13.
    Croffie JM, Davis MM, Faught PR, Corkins MR, Gupta SK, Pfefferkorn MD, Molleston JP, Fitzgerald JF. At what age is a suction rectal biopsy less likely to provide adequate tissue for identification of ganglion cells? J Pediatr Gastroenterol Nutr. 2007;44:198–202.CrossRefGoogle Scholar
  14. 14.
    Qualman SJ, Jaffe R, Bove KE, Monforte-Muñoz H. Diagnosis of Hirschsprung disease using the rectal biopsy: multi-institutional survey. Pediatr Dev Pathol. 1999;2:588–96.CrossRefGoogle Scholar
  15. 15.
    Kume K, Tanaka K, Inokuchi K. Clinicopathological and basic study on diagnosis and pathogenesis of Hirschsprung’s disease. J Jpn Soc Pediatr Surg. 1971;6:479–97.. (In Japanese)Google Scholar
  16. 16.
    Aldridge RT, Campbell PE. Ganglion cell distribution in the normal rectum and anal canal. A basis for the diagnosis of Hirschsprung’s disease by anorectal biopsy. J Pediatr Surg. 1968;3:475–90.CrossRefGoogle Scholar
  17. 17.
    Venugopal S, Mancer K, Shandling B. The validity of rectal biopsy in relation to morphology and distribution of ganglion cells. J Pediatr Surg. 1981;16:433–7.CrossRefGoogle Scholar
  18. 18.
    Muise ED, Cowles RA. Rectal biopsy for Hirschsprung’s disease: a review of techniques, pathology, and complications. World J Pediatr. 2016;12:135–41.CrossRefGoogle Scholar
  19. 19.
  20. 20.
    Shandling. A new technique in the diagnosis of Hirschsprung’s disease. Can J Surg. 1961;4:298–305.PubMedGoogle Scholar
  21. 21.
    Yoshimaru K, Kinoshita Y, Yanagi Y, Obata S, Jimbo T, Iwanaka T, Takahashi Y, Esumi G, Miyata JA, Matsuura T, Izaki T, Taguchi T. The evaluation of rectal mucosal punch biopsy in the diagnosis of Hirschsprung’s disease: a thirty-year experience of 954 patients. Pediatr Surg Int. 2017;33:173–9.CrossRefGoogle Scholar
  22. 22.
    Rees BI, Azmy A, Nigam M, Lake BD. Complications of rectal suction biopsy. J Pediatr Surg. 1983;18:273–5.CrossRefGoogle Scholar
  23. 23.
    Jani BR, Brereton RJ, Dillon MJ. Peripheral limb gangrene following rectal biopsy. Treatment with prostacyclin and exchange transfusion. Clin Pediatr (Phila). 1989;28:585–8.CrossRefGoogle Scholar
  24. 24.
    Athow AC, Filipe MI, Drake DP. Problems and advantages of acetylcholinesterase histochemistry of rectal suction biopsies in the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1990;25:520–6.CrossRefGoogle Scholar
  25. 25.
    Schmittenbecher PP, Schmidt A, Meier-Ruge W, Wiebecke B. Rectal suction biopsy: can it be sufficient to diagnose neuronal intestinal dysplasia? Eur J Pediatr Surg. 1995;5:277–9.CrossRefGoogle Scholar
  26. 26.
    Cusick EL, Buick RG. Injury to the common iliac artery during suction rectal biopsy. J Pediatr Surg. 1995;30:111–2.CrossRefGoogle Scholar
  27. 27.
    Ghosh A, Griffiths DM. Rectal biopsy in the investigation of constipation. Arch Dis Child. 1998;79:266–8.CrossRefGoogle Scholar
  28. 28.
    Alizai NK, Batcup G, Dixon MF, Stringer MD. Rectal biopsy for Hirschsprung’s disease: what is the optimum method? Pediatr Surg Int. 1998;13:121–4.CrossRefGoogle Scholar
  29. 29.
    Kobayashi H, Li Z, Yamataka A, Lane GJ, Miyano T. Rectal biopsy: what is the optimal procedure? Pediatr Surg Int. 2002;18:753–6.CrossRefGoogle Scholar
  30. 30.
    Ali AE, Morecroft JA, Bowen JC, Bruce J, Morabito A. Wall or machine suction rectal biopsy for Hirschsprung’s disease: a simple modified technique can improve the adequacy of biopsy. Pediatr Surg Int. 2006;22:681–2.CrossRefGoogle Scholar
  31. 31.
    Hall NJ, Kufeji D, Keshtgar A. Out with the old and in with the new: a comparison of rectal suction biopsies with traditional and modern biopsy forceps. J Pediatr Surg. 2009;44:395–8.CrossRefGoogle Scholar
  32. 32.
    Pini-Prato A, Carlini C, Pesce F, Jasonni V, Seymandi P. Massive bleeding after rectal suction biopsy: uncommon and unexpected delayed onset. World J Pediatr. 2011;7:83–5.CrossRefGoogle Scholar
  33. 33.
    Hayes CE, Kawatu D, Mangray S, LeLeiko NS. Rectal suction biopsy to exclude the diagnosis of Hirschsprung disease. J Pediatr Gastroenterol Nutr. 2012;55:268–71.CrossRefGoogle Scholar
  34. 34.
    Dahshan A. Serious rectal bleeding complicating suction rectal biopsy in a child. W V Med J. 2014;110:34–5.PubMedGoogle Scholar
  35. 35.
    Bjørn N, Rasmussen L, Qvist N, Detlefsen S, Ellebæk MB. Full-thickness rectal biopsy in children suspicious for Hirschsprung’s disease is safe and yields a low number of insufficient biopsies. J Pediatr Surg. 2018;53(10):1942–4.CrossRefGoogle Scholar
  36. 36.
    Friedmacher F, Puri P. Rectal suction biopsy for the diagnosis of Hirschsprung’s disease: a systematic review of diagnostic accuracy and complications. Pediatr Surg Int. 2015;31:821–30.CrossRefGoogle Scholar
  37. 37.
    Khan AR, Vujanic GM, Huddart S. The constipated child: how likely is Hirschsprung’s disease? Pediatr Surg Int. 2003;19:439–42.CrossRefGoogle Scholar
  38. 38.
    Hirose R, Hirata Y, Yamada T, Kawana T, Taguchi T, Suita S. The simple technique of rectal mucosal biopsy for the diagnosis of Hirschsprung’s disease. J Pediatr Surg. 1993;28:942–4.CrossRefGoogle Scholar
  39. 39.
    Budianto IR, Obata S, Kinoshita Y, et al. Reevaluation of acetylcholinesterase staining for the diagnosis of Hirschsprung disease and allied disorders. J Pediatr Gastroenterol Nutr. 2015;60:606–12.CrossRefGoogle Scholar
  40. 40.
    Lee CC, Lien R, Chiang MC, Yang PH, Chu SM, Fu JH, Lai JY. Clinical impacts of delayed diagnosis of Hirschsprung’s disease in newborn infants. Pediatr Neonatol. 2012;53:133–7.CrossRefGoogle Scholar
  41. 41.
    Duess JW, Hofmann AD, Puri P. Prevalence of Hirschsprung’s disease in premature infants: a systematic review. Pediatr Surg Int. 2014;30:791–5.CrossRefGoogle Scholar
  42. 42.
    Meinds RJ, Kuiper GA, Parry K, Timmer A, Groen H, Heineman E, Broens PM. Infant’s age influences the accuracy of rectal suction biopsies for diagnosing of Hirschsprung’s disease. Clin Gastroenterol Hepatol. 2015;13:1801–7.CrossRefGoogle Scholar
  43. 43.
    Toledo de Arruda Lourenção PL, Terra SA, Ortolan EV, Rodrigues MA. Intestinal neuronal dysplasia type B: a still little known diagnosis for organic causes of intestinal chronic constipation. World J Gastrointest Pharmacol Ther. 2016;7:397–405.CrossRefGoogle Scholar
  44. 44.
    Borchard F, Meier-Ruge W, Wiebecke B, et al. Innervationsstörungen des Dickdarms. Klassifikation und Diagnostik Pathologe. 1991;12:171–4.Google Scholar
  45. 45.
    Nagashima T, Konishi F, Sato T, Sato T, Makino S, Kanazawa K. Hirschsprung’s disease in an adult patient with familial occurrence: report of a case. Surg Today. 1998;28:943–7.CrossRefGoogle Scholar
  46. 46.
    Miyamoto M, Egami K, Maeda S, et al. Hirschsprung’s disease in adults: report of a case and review of the literature. J Nippon Med Sch. 2005;72:113–20.CrossRefGoogle Scholar
  47. 47.
    Qiu JF, Shi YJ, Hu L, Fang L, Wang HF, Zhang MC. Adult Hirschsprung’s disease: report of four cases. Int J Clin Exp Pathol. 2013;6:1624–30.PubMedPubMedCentralGoogle Scholar
  48. 48.
    Martinez JP. Adult Hirschsprung’s disease. CJEM. 2015;17:704–5.CrossRefGoogle Scholar
  49. 49.
    Zeng M, Amodio J, Schwarz S, Garrow E, Xu J, Rabinowitz SS. Hirschsprung disease presenting as sigmoid volvulus: a case report and review of the literature. J Pediatr Surg. 2013;48:243–6.CrossRefGoogle Scholar
  50. 50.
    López Ruiz JA, Tallón Aguilar L, et al. Hirschsprung disease with debut in adult age as acute intestinal obstruction: case report. Rev Esp Enferm Dig. 2016;11:108.Google Scholar
  51. 51.
    Ranjan A, Jain V, Sharma S, Gupta DK. Sigmoid volvulus: an uncommon complication of Hirschsprung’s disease. BMJ Case Rep. 2016;2016:pii:bcr2016214693.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  1. 1.Department of Pediatric Surgery, Reproductive and Developmental Medicine, Faculty of Medical SciencesKyushu UniversityFukuokaJapan

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