Hirschsprung Disease Questions & Answers

1. Heanue TA, Pachnis V. Enteric nervous system development and Hirschsprung's disease: advances in genetic and stem cell studies. Nat Rev Neurosci. 2007 Jun. 8(6):466-79. [QxMD MEDLINE Link].

2. Whitehouse FR, Kernohan JW. Myenteric plexus in congenital megacolon; study of 11 cases. Arch Intern Med (Chic). 1948 Jul. 82(1):75-111. [QxMD MEDLINE Link].

3. Okamoto E, Takashi U. Embryogenesis of intramural ganglia of the gut and its relation to Hirschsprung's disease. J Pediatr Surg. 1967. 2(5):437-43.

4. Langer JC, Betti PA, Blennerhassett MG. Smooth muscle from aganglionic bowel in Hirschsprung's disease impairs neuronal development in vitro. Cell Tissue Res. 1994 Apr. 276(1):181-6. [QxMD MEDLINE Link].

5. Tosney KW, Watanabe M, Landmesser L, et al. The distribution of NCAM in the chick hindlimb during axon outgrowth and synaptogenesis. Dev Biol. 1986 Apr. 114(2):437-52. [QxMD MEDLINE Link].

6. Gaillard D. Congenital aganglionic colon in mice. Gastroenterology. 1982 Oct. 83(4):947-8. [QxMD MEDLINE Link].

7. Tang CS, Gui H, Kapoor A, et al. Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. Hum Mol Genet. 2016 Dec 1. 25(23):5265-75. [QxMD MEDLINE Link].

8. So MT, Leon TY, Cheng G, et al. RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients. PLoS One. 2011. 6(12):e28986. [QxMD MEDLINE Link]. [Full Text].

9. Leon TY, So MT, Lui VC, et al. Functional analyses of RET mutations in Chinese Hirschsprung disease patients. Birth Defects Res A Clin Mol Teratol. 2012 Jan. 94(1):47-51. [QxMD MEDLINE Link].

10. Qin KW, Shi H, Zhang L, Liu PF, Cai WL, Wu KH. The research on screening differentially expressed genes in Hirschsprung's disease by using Microarray. J Pediatr Surg. 2013 Nov. 48(11):2281-8. [QxMD MEDLINE Link].

11. Chen D, Mi J, Wu M, Wang W, Gao H. Expression of dishevelled gene in Hirschsprung's disease. Int J Clin Exp Pathol. 2013. 6(9):1791-8. [QxMD MEDLINE Link].

12. Butler Tjaden NE, Trainor PA. The developmental etiology and pathogenesis of Hirschsprung disease. Transl Res. 2013 Jul. 162(1):1-15. [QxMD MEDLINE Link].

13. Kubota M, Suita S, Kamimura T, Ito Y, Szurszewski JH. Electrophysiological properties of the aganglionic segment in Hirschsprung's disease. Surgery. 2002 Jan. 131(1 suppl):S288-93. [QxMD MEDLINE Link].

14. Ward SM, Sanders KM. Physiology and pathophysiology of the interstitial cell of Cajal: from bench to bedside. I. Functional development and plasticity of interstitial cells of Cajal networks. Am J Physiol Gastrointest Liver Physiol. 2001 Sep. 281(3):G602-11. [QxMD MEDLINE Link].

15. Vanderwinden JM, Rumessen JJ, Liu H, Descamps D, De Laet MH, Vanderhaeghen JJ. Interstitial cells of Cajal in human colon and in Hirschsprung's disease. Gastroenterology. 1996 Oct. 111(4):901-10. [QxMD MEDLINE Link].

16. Wang J, Mou Y, Zhang Q, et al. Expression and significance of neuroligins in myenteric cells of Cajal in Hirschsprung's disease. PLoS One. 2013. 8(6):e67205. [QxMD MEDLINE Link]. [Full Text].

17. Moore SW. Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease). Pediatr Surg Int. 2017 Mar. 33(3):285-98. [QxMD MEDLINE Link].

18. Meza-Valencia BE, de Lorimier AJ, Person DA. Hirschsprung disease in the U.S. associated Pacific Islands: more common than expected. Hawaii Med J. 2005 Apr. 64(4):96-8, 100-1. [QxMD MEDLINE Link].

19. Russell MB, Russell CA, Niebuhr E. An epidemiological study of Hirschsprung's disease and additional anomalies. Acta Paediatr. 1994 Jan. 83(1):68-71. [QxMD MEDLINE Link].

20. Puri P, Montedonico S. Hirschsprung disease: clinical features. Holschneider AM, Puri P, eds. In: Hirschsprung Disease and Allied Disorders. 3rd ed. New York, NY: Springer; 2008. 107-13.

21. Vorobyov GI, Achkasov SI, Biryukov OM. Clinical features' diagnostics and treatment of Hirschsprung's disease in adults. Colorectal Dis. 2010 Dec. 12(12):1242-8. [QxMD MEDLINE Link].

22. Ryan ET, Ecker JL, Christakis NA, Folkman J. Hirschsprung's disease: associated abnormalities and demography. J Pediatr Surg. 1992 Jan. 27(1):76-81. [QxMD MEDLINE Link].

23. Pini Prato A, Rossi V, Mosconi M, Holm C, Lantieri F, Griseri P. A prospective observational study of associated anomalies in Hirschsprung's disease. Orphanet J Rare Dis. 2013. 8:184. [QxMD MEDLINE Link].

24. Yanchar NL, Soucy P. Long-term outcome after Hirschsprung's disease: patients' perspectives. J Pediatr Surg. 1999 Jul. 34(7):1152-60. [QxMD MEDLINE Link].

25. De la Torre L, Ortega A. Transanal versus open endorectal pull-through for Hirschsprung's disease. J Pediatr Surg. 2000 Nov. 35(11):1630-2. [QxMD MEDLINE Link].

26. Caniano DA, Teitelbaum DH, Qualman SJ. Management of Hirschsprung's disease in children with trisomy 21. Am J Surg. 1990 Apr. 159(4):402-4. [QxMD MEDLINE Link].

27. Hackam DJ, Reblock K, Barksdale EM, Redlinger R, Lynch J, Gaines BA. The influence of Down's syndrome on the management and outcome of children with Hirschsprung's disease. J Pediatr Surg. 2003 Jun. 38(6):946-9. [QxMD MEDLINE Link].

28. Han JW, Youn JK, Oh C, Kim HY, Jung SE, Park KW. Why do the patients with Hirschsprung disease get redo pull-through operation?. Eur J Pediatr Surg. 2019 Oct. 29(5):431-6. [QxMD MEDLINE Link].

29. Menezes M, Corbally M, Puri P. Long-term results of bowel function after treatment for Hirschsprung's disease: a 29-year review. Pediatr Surg Int. 2006 Dec. 22(12):987-90. [QxMD MEDLINE Link].

30. Khasanov R, Schaible T, Wessel LM, Hagl CI. The surgical treatment of toxic megacolon in Hirschsprung disease. Pediatr Emerg Care. 2016 Nov. 32(11):785-8. [QxMD MEDLINE Link].

31. Dasgupta R, Langer JC. Hirschsprung disease. Curr Probl Surg. 2004 Dec. 41(12):942-88. [QxMD MEDLINE Link].

32. Friedmacher F, Puri P. Residual aganglionosis after pull-through operation for Hirschsprung's disease: a systematic review and meta-analysis. Pediatr Surg Int. 2011 Oct. 27(10):1053-7. [QxMD MEDLINE Link].

33. Langer JC. Repeat pull-through surgery for complicated Hirschsprung's disease: indications, techniques, and results. J Pediatr Surg. 1999 Jul. 34(7):1136-41. [QxMD MEDLINE Link].

34. Shayan K, Smith C, Langer JC. Reliability of intraoperative frozen sections in the management of Hirschsprung's disease. J Pediatr Surg. 2004 Sep. 39(9):1345-8. [QxMD MEDLINE Link].

35. Cohen MC, Moore SW, Neveling U, Kaschula RO. Acquired aganglionosis following surgery for Hirschsprung's disease: a report of five cases during a 33-year experience with pull-through procedures. Histopathology. 1993 Feb. 22(2):163-8. [QxMD MEDLINE Link].

36. Teitelbaum DH, Coran AG. Reoperative surgery for Hirschsprung's disease. Semin Pediatr Surg. 2003 May. 12(2):124-31. [QxMD MEDLINE Link].

37. Schmittenbecher PP, Sacher P, Cholewa D, et al. Hirschsprung's disease and intestinal neuronal dysplasia--a frequent association with implications for the postoperative course. Pediatr Surg Int. 1999. 15(8):553-8. [QxMD MEDLINE Link].

38. Di Lorenzo C, Solzi GF, Flores AF, Schwankovsky L, Hyman PE. Colonic motility after surgery for Hirschsprung's disease. Am J Gastroenterol. 2000 Jul. 95(7):1759-64. [QxMD MEDLINE Link].

39. Minkes RK, Langer JC. A prospective study of botulinum toxin for internal anal sphincter hypertonicity in children with Hirschsprung's disease. J Pediatr Surg. 2000 Dec. 35(12):1733-6. [QxMD MEDLINE Link].

40. Millar AJ, Steinberg RM, Raad J, Rode H. Anal achalasia after pull-through operations for Hirschsprung's disease -- preliminary experience with topical nitric oxide. Eur J Pediatr Surg. 2002 Jun. 12(3):207-11. [QxMD MEDLINE Link].

41. Chait PG, Shlomovitz E, Connolly BL, et al. Percutaneous cecostomy: updates in technique and patient care. Radiology. 2003 Apr. 227(1):246-50. [QxMD MEDLINE Link].

42. Belin B, Corteville JE, Langer JC. How accurate is prenatal sonography for the diagnosis of imperforate anus and Hirschsprung disease?. Pediatr Surg Int. 1995. 10:30-2.

43. Teitelbaum DH, Caniano DA, Qualman SJ. The pathophysiology of Hirschsprung's-associated enterocolitis: importance of histologic correlates. J Pediatr Surg. 1989 Dec. 24(12):1271-7. [QxMD MEDLINE Link].

44. Wu XJ, Zhang HY, Li N, et al. A new diagnostic scoring system to differentiate Hirschsprung's disease from Hirschsprung's disease-allied disorders in patients with suspected intestinal dysganglionosis. Int J Colorectal Dis. 2013 May. 28(5):689-96. [QxMD MEDLINE Link].

45. Smith GH, Cass D. Infantile Hirschsprung disease - is barium enema useful?. Pediatr Surg Int. 1991. 6:318-21.

46. Pensabene L, Youssef NN, Griffiths JM, Di Lorenzo C. Colonic manometry in children with defecatory disorders. Role in diagnosis and management. Am J Gastroenterol. 2003 May. 98(5):1052-7. [QxMD MEDLINE Link].

47. Redkar R, Chigicherla S, Tewari S, Sharma RD. Comparison between suction rectal biopsy and full-thickness rectal biopsy in the diagnosis of Hirschsprung's disease. J Indian Assoc Pediatr Surg. 2021 May-Jun. 26(3):144-7. [QxMD MEDLINE Link]. [Full Text].

48. Agrawal RK, Kakkar N, Vasishta RK, Kumari V, Samujh R, Rao KL. Acetylcholinesterase histochemistry (AChE)--a helpful technique in the diagnosis and in aiding the operative procedures of Hirschsprung disease. Diagn Pathol. 2015 Dec 2. 10:208. [QxMD MEDLINE Link].

49. Kapur RP, Reed RC, Finn LS, Patterson K, Johanson J, Rutledge JC. Calretinin immunohistochemistry versus acetylcholinesterase histochemistry in the evaluation of suction rectal biopsies for Hirschsprung Disease. Pediatr Dev Pathol. 2009 Jan-Feb. 12(1):6-15. [QxMD MEDLINE Link].

50. Guinard-Samuel V, Bonnard A, De Lagausie P, et al. Calretinin immunohistochemistry: a simple and efficient tool to diagnose Hirschsprung disease. Mod Pathol. 2009 Oct. 22(10):1379-84. [QxMD MEDLINE Link].

51. Tran VQ, Lam KT, Truong DQ, et al. Diagnostic value of rectal suction biopsies using calretinin immunohistochemical staining in Hirschsprung's disease. J Pediatr Surg. 2016 Dec. 51(12):2005-9. [QxMD MEDLINE Link].

52. Yang WI, Oh JT. Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. J Pediatr Surg. 2013 Oct. 48(10):2112-7. [QxMD MEDLINE Link].

53. Ralls MW, Coran AG, Teitelbaum DH. Redo pullthrough for Hirschsprung disease. Pediatr Surg Int. 2017 Apr. 33(4):455-60. [QxMD MEDLINE Link].

54. Cairo SB, Chiu PPL, Dasgupta R, et al, for the American Academy of Pediatrics Section on Surgery's Delivery of Surgical Care Committee. Transitions in care from pediatric to adult general surgery: Evaluating an unmet need for patients with anorectal malformation and Hirschsprung disease. J Pediatr Surg. 2018 Aug. 53(8):1566-72. [QxMD MEDLINE Link].

55. Marty TL, Seo T, Sullivan JJ, Matlak ME, Black RE, Johnson DG. Rectal irrigations for the prevention of postoperative enterocolitis in Hirschsprung's disease. J Pediatr Surg. 1995 May. 30(5):652-4. [QxMD MEDLINE Link].

56. Elhalaby EA, Teitelbaum DH, Coran AG, Heidelberger KP. Enterocolitis associated with Hirschsprung's disease: a clinical histopathological correlative study. J Pediatr Surg. 1995 Jul. 30(7):1023-6; discussion 1026-7. [QxMD MEDLINE Link].

57. Rintala RJ, Lindahl H. Sodium cromoglycate in the management of chronic or recurrent enterocolitis in patients with Hirschsprung's disease. J Pediatr Surg. 2001 Jul. 36(7):1032-5. [QxMD MEDLINE Link].

58. Han-Geurts IJ, Hendrix VC, de Blaauw I, Wijnen MH, van Heurn EL. Outcome after anal intrasphincteric Botox injection in children with surgically treated Hirschsprung disease. J Pediatr Gastroenterol Nutr. 2014 Nov. 59(5):604-7. [QxMD MEDLINE Link].

59. Frykman PK, Short SS. Hirschsprung-associated enterocolitis: prevention and therapy. Semin Pediatr Surg. 2012 Nov. 21(4):328-35. [QxMD MEDLINE Link].

60. Svetanoff WJ, Lopez J, Aguayo P, Hendrickson RJ, Oyetunji TA, Rentea RM. The impact of botulinum injection for hospitalized children with Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2021 Jul 26. [QxMD MEDLINE Link].

61. [Guideline] Gosain A, Frykman PK, Cowles RA, et al, for the American Pediatric Surgical Association Hirschsprung Disease Interest Group. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017 May. 33(5):517-21. [QxMD MEDLINE Link]. [Full Text].

62. Coe A, Collins MH, Lawal T, Louden E, Levitt MA, Pena A. Reoperation for Hirschsprung disease: pathology of the resected problematic distal pull-through. Pediatr Dev Pathol. 2012 Jan-Feb. 15(1):30-8. [QxMD MEDLINE Link].

63. [Guideline] Langer JC, Rollins MD, Levitt M, et al, for the American Pediatric Surgical Association Hirschsprung Disease Interest Group. Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease. Pediatr Surg Int. 2017 May. 33(5):523-6. [QxMD MEDLINE Link].

64. [Guideline] Saadai P, Trappey AF, Goldstein AM, et al, for the American Pediatric Surgical Association Hirschsprung Disease Interest Group. Guidelines for the management of postoperative soiling in children with Hirschsprung disease. Pediatr Surg Int. 2019 Aug. 35(8):829-34. [QxMD MEDLINE Link].

65. Thakkar HS, Bassett C, Hsu A, et al. Functional outcomes in Hirschsprung disease: a single institution's 12-year experience. J Pediatr Surg. 2017 Feb. 52(2):277-80. [QxMD MEDLINE Link].

66. Georgeson KE, Cohen RD, Hebra A, et al. Primary laparoscopic-assisted endorectal colon pull-through for Hirschsprung's disease: a new gold standard. Ann Surg. 1999 May. 229(5):678-82; discussion 682-3. [QxMD MEDLINE Link]. [Full Text].

67. de Lagausie P, Berrebi D, Geib G, Sebag G, Aigrain Y. Laparoscopic Duhamel procedure. Management of 30 cases. Surg Endosc. 1999 Oct. 13(10):972-4. [QxMD MEDLINE Link].

68. Curran TJ, Raffensperger JG. Laparoscopic Swenson pull-through: a comparison with the open procedure. J Pediatr Surg. 1996 Aug. 31(8):1155-6; discussion 1156-7. [QxMD MEDLINE Link].

69. Muller CO, Rossignol G, Montalva L, et al. Long-term outcome of laparoscopic Duhamel procedure for extended Hirschsprung's disease. J Laparoendosc Adv Surg Tech A. 2016 Dec. 26(12):1032-5. [QxMD MEDLINE Link].

70. Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pullthrough for Hirschsprung disease: a multicenter experience with 141 children. Ann Surg. 2003 Oct. 238(4):569-83; discussion 583-5. [QxMD MEDLINE Link]. [Full Text].

71. Langer JC, Seifert M, Minkes RK. One-stage Soave pull-through for Hirschsprung's disease: a comparison of the transanal and open approaches. J Pediatr Surg. 2000 Jun. 35(6):820-2. [QxMD MEDLINE Link].

72. Gosemann JH, Friedmacher F, Ure B, Lacher M. Open versus transanal pull-through for Hirschsprung disease: a systematic review of long-term outcome. Eur J Pediatr Surg. 2013 Apr. 23(2):94-102. [QxMD MEDLINE Link].

73. Chen Y, Nah SA, Laksmi NK, et al. Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis. J Pediatr Surg. 2013 Mar. 48(3):642-51. [QxMD MEDLINE Link].

74. Onishi S, Nakame K, Yamada K, et al. Long-term outcome of bowel function for 110 consecutive cases of Hirschsprung's disease: Comparison of the abdominal approach with transanal approach more than 30 years in a single institution - is the transanal approach truly beneficial for bowel function?. J Pediatr Surg. 2016 Dec. 51(12):2010-4. [QxMD MEDLINE Link].

75. Levitt MA, Hamrick MC, Eradi B, Bischoff A, Hall J, Pena A. Transanal, full-thickness, Swenson-like approach for Hirschsprung disease. J Pediatr Surg. 2013 Nov. 48(11):2289-95. [QxMD MEDLINE Link].

76. Tang ST, Yang Y, Li SW, et al. Single-incision laparoscopic versus conventional laparoscopic endorectal pull-through for Hirschsprung's disease: a comparison of short-term surgical results. J Pediatr Surg. 2013 Sep. 48(9):1919-23. [QxMD MEDLINE Link].

77. Li N, Zhang W, Yu D, et al. NOTES for surgical treatment of long-segment Hirschsprung's disease: report of three cases. J Laparoendosc Adv Surg Tech A. 2013 Dec. 23(12):1020-3. [QxMD MEDLINE Link].

78. Vahdad MR, Foroutan A, Najafi SM, et al. Totally transanal LESS pull-through colectomy: a novel approach for avoiding abdominal wall incision in children with long-segment intestinal aganglionosis. J Laparoendosc Adv Surg Tech A. 2013 Mar. 23(3):276-80. [QxMD MEDLINE Link].

79. Hotta R, Stamp LA, Foong JP, et al. Transplanted progenitors generate functional enteric neurons in the postnatal colon. J Clin Invest. 2013 Mar 1. 123(3):1182-91. [QxMD MEDLINE Link]. [Full Text].

80. Frith TJR, Gogolou A, Hackland JOS, et al. Retinoic acid accelerates the specification of enteric neural progenitors from in-vitro-derived neural crest. Stem Cell Reports. 2020 Aug 11. [QxMD MEDLINE Link]. [Full Text].

81. Levitt MA, Martin CA, Olesevich M, Bauer CL, Jackson LE, Pena A. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 2009 Jan. 44(1):271-7; discussion 277. [QxMD MEDLINE Link].

82. [Guideline] Kyrklund K, Sloots CEJ, de Blaauw I, et al. ERNICA guidelines for the management of rectosigmoid Hirschsprung's disease. Orphanet J Rare Dis. 2020 Jun 25. 15(1):164. [QxMD MEDLINE Link]. [Full Text].

83. Thapar N. New frontiers in the treatment of Hirschsprung disease. J Pediatr Gastroenterol Nutr. 2009 Apr. 48 suppl 2:S92-4. [QxMD MEDLINE Link].

84. Versteegh HP, Johal NS, de Blaauw I, Stanton MP. Urological and sexual outcome in patients with Hirschsprung disease: A systematic review. J Pediatr Urol. 2016 Dec. 12(6):352-60. [QxMD MEDLINE Link].

85. Kapur RP. Histology of the transition zone in Hirschsprung disease. Am J Surg Pathol. 2016 Dec. 40(12):1637-46. [QxMD MEDLINE Link].

86. Witvliet MJ, van Gasteren S, van den Hondel D, Hartman E, van Heurn L, van der Steeg A. Predicting sexual problems in young adults with an anorectal malformation or Hirschsprung disease. J Pediatr Surg. 2018 Aug. 53(8):1555-9. [QxMD MEDLINE Link].

Justin P Wagner, MD Resident Physician, Department of Surgery, University of California, Los Angeles, David Geffen School of Medicine

Justin P Wagner, MD is a member of the following medical societies: American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Association for Surgical Education, Association of Program Directors in Surgery

Disclosure: Nothing to disclose.

Shant Shekherdimian, MD, MPH Resident Physician, Department of Pediatric Surgery, Hospital for Sick Children; Toronto, Ontario, Canada

Disclosure: Nothing to disclose.

Steven L Lee, MD Chief of Pediatric Surgery, Harbor-UCLA Medical Center; Associate Clinical Professor of Surgery and Pediatrics; University of California, Los Angeles, David Geffen School of Medicine

Steven L Lee, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, Society of Laparoendoscopic Surgeons, International Pediatric Endosurgery Group, Pacific Association of Pediatric Surgery, Society of American Gastrointestinal and Endoscopic Surgeons

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

BS Anand, MD Professor, Department of Internal Medicine, Division of Gastroenterology, Baylor College of Medicine

BS Anand, MD is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Gastroenterology, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Vivek V Gumaste, MD Associate Professor of Medicine, Mount Sinai School of Medicine of New York University; Adjunct Clinical Assistant, Mount Sinai Hospital; Director, Division of Gastroenterology, City Hospital Center at Elmhurst; Program Director of GI Fellowship (Independent Program); Regional Director of Gastroenterology, Queens Health Network

Vivek V Gumaste, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association

Disclosure: Nothing to disclose.

Jeffrey J DuBois, MD Chief of Children's Surgical Services, Division of Pediatric Surgery, Kaiser Permanente, Women and Children's Center, Roseville Medical Center

Jeffrey J DuBois, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, and California Medical Association

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article