Hirschsprung disease - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Hirschsprung disease is most commonly diagnosed in the first year of life.
Presents with vomiting, abdominal distension, and/or enterocolitis.
May be associated with Down syndrome and multiple endocrine neoplasia type IIA.
Definitive diagnosis is with a rectal biopsy.
Initial treatment is bowel irrigation, followed by a definitive surgical treatment, either transanally alone or with laparoscopic assistance. Rarely, colostomy or ileostomy is required to manage severe enterocolitis, with definitive pull-through delayed.

Contrast enema demonstrates the typical proximal dilation, transition zone, and nondistended, aganglionic portion

Corman ML. Colon and rectal surgery. 5th ed. Philadelphia, PA: Lippincott Williams and Wilkins; 2005:555-603; used with permission

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Definition

Epidemiology

Etiology

Pathophysiology

Images

Histologic section including mucosa with submucosa of the rectum showing clusters of ganglion cells in the submucosal plexus. This excludes Hirschsprung disease at this level
Histologic section including mucosa and submucosa of the rectum showing tortuous and hypertrophic nerve trunks of the submucosal plexus. There is no evidence of any ganglion cell present. This establishes the diagnosis of Hirschsprung disease
Abdominal x-ray image showing gaseous distension of the large bowel with air absent from the rectum (typical of Hirschsprung disease)
Barium enema performed in a newborn with Hirschsprung disease. Often, classical changes are not obvious in the neonatal period
Contrast enema demonstrates the typical proximal dilation, transition zone, and nondistended, aganglionic portion

Citations

Key Articles

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;48:642-51.[Abstract]
Levitt MA, Dickie B, Peña A. Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 2010;19:146-53.[Abstract]
Levitt MA, Martin CA, Olesevich M, et al. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 2009;44:271-7.[Abstract]

Referenced Articles

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28. Moore BG, Singaram C, Eckhoff DE, et al. Immunohistochemical evaluations of ultrashort-segment Hirschsprung's disease. Dis Colon Rectum. 1996;39:817-22.[Abstract]
29. Yang WI, Oh JT. Calretinin and microtubule-associated protein-2 (MAP-2) immunohistochemistry in the diagnosis of Hirschsprung's disease. J Pediatr Surg. 2013;48:2112-7.[Abstract]
30. Gosain, A., Frykman, P.K., Cowles, R.A. et al. Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis. Pediatr Surg Int. 2017 May 33(5):517-21. [Abstract][Full Text]
31. Journal of Laparoendoscopic & Advanced Surgical Techniques. March 2005, 15(1): 89-91.[Abstract][Full Text]
32. Georgeson KE, Fuenfer MM, Hardin WD. Primary laparoscopic pull-through for Hirschsprung's disease in infants and children. J Pediatr Surg. 1995;30:1017-21.[Abstract]
33. Smith BM, Steiner RB, Lobe TE. Laparoscopic Duhamel pullthrough procedure for Hirschsprung's disease in childhood. J Laparoendosc Surg. 1994;4:273-6.[Abstract]
34. Kim AC, Langer JC, Pastor AC, et al. Endorectal pull-through for Hirschsprung's disease - a multicenter, long-term comparison of results: transanal vs transabdominal approach. J Pediatr Surg. 2010;45:1213-20.[Abstract]
35. Badner JA, Sieber WK, Garver KL, et al. A genetic study of Hirschsprung disease. Am J Hum Genet. 1990;46:568-80.[Abstract][Full Text]
36. Carcassonne M, Morisson-Lacombe G, Letourneau JN. Primary corrective operation without decompression in infants less than three months of age with Hirschsprung's disease. J Pediatr Surg. 1982;17:241-3.[Abstract]
37. So HB, Schwartz DL, Becker JM, et al. Endorectal "pull-through" without preliminary colostomy in neonates with Hirschsprung's disease. J Pediatr Surg. 1980;15:470-1.[Abstract]
38. De la Torre-Mondragon L, Ortega-Salgado JA. Transanal endorectal pull-through for Hirschsprung's disease. J Pediatr Surg. 1998;33:1283-6.[Abstract]
39. Soave F. Hirschsprung's disease - a new surgical technique. Arch Dis Child. 1964;39:116-24.[Abstract]
40. Duhamel B. Retrorectal and transanal pull-through procedure for the treatment of Hirschsprung's disease. Dis Colon Rectum. 1964;7:455-8.[Abstract]
41. Chatoorgoon K, Pena A, Lawal TA, et al. The problematic Duhamel pouch in Hirschsprung's disease: manifestations and treatment. Eur J Pediatr Surg. 2011;21:366-9.[Abstract]
42. Lynn HB, van Heerden JA. Rectal myectomy in Hirschsprung's disease: a decade of experience. Arch Surg. 1975;110:991-4.[Abstract]
43. Levitt MA, Hamrick MC, Eradi B, et al. Transanal, full-thickness, Swenson-like approach for Hirschsprung disease. J Pediatr Surg. 2013;48:2289-95.[Abstract]
44. 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;48:642-51.[Abstract]
45. Bischoff A, Levitt MA, Peña A. Total colonic aganglionosis: a surgical challenge. How to avoid complications? Pediatr Surg Int. 2011;27:1047-52.[Abstract][Full Text]
46. Levitt MA, Dickie B, Peña A. Evaluation and treatment of the patient with Hirschsprung disease who is not doing well after a pull-through procedure. Semin Pediatr Surg. 2010;19:146-53.[Abstract]
47. Swenson O, Bill AH. Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon: an experimental study. Surgery. 1948;24:212.
48. El-Sawaf MI, Drongowski RA, Chamberlain JN, et al. Are the long-term results of the transanal pull-through equal to those of the transabdominal pull-through? A comparison of the two approaches for Hirschsprung's disease. J Pediatr Surg. 2007;42:41-7.[Abstract]
49. Langer JC, Durrant AC, de la Torre L, et al. One-stage transanal Soave pullthrough for Hirschsprung's disease: a multi-center experience with 141 children. Ann Surg. 2003;238:569-76.[Abstract][Full Text]
50. Sandgren K, Ekblad E, Larsson LT. Survival of neurons and interstitial cells of Cajal after autotransplantation of myenteric ganglia from small intestine in the lethal spotted mouse. Pediatr Surg Int. 2000;16:272-6.[Abstract]
51. Hu H, Ding Y, Mu W, et al. DRG-derived neural progenitors differentiate into functional enteric neurons following transplantation in the postnatal colon. Cell Transplant. 2019 Feb;28(2):157-69.[Abstract][Full Text]
52. Lai FP, Lau ST, Wong JK, et al. Correction of Hirschsprung-associated mutations in human induced pluripotent stem cells via clustered regularly interspaced short palindromic repeats/Cas9, restores neural crest cell function. Gastroenterology. 2017 Jul;153(1):139-53.[Abstract][Full Text]
53. Rodríguez-Rodríguez DR, Ramírez-Solís R, Garza-Elizondo MA, et al. Genome editing: A perspective on the application of CRISPR/Cas9 to study human diseases (Review). Int J Mol Med. 2019 Apr;43(4):1559-74.[Abstract][Full Text]
54. Levitt MA, Dickie B, Peña A. The Hirschsprungs patient who is soiling after what was considered a "successful" pull-through. Semin Pediatr Surg. 2012;21:344-53.[Abstract]
55. Levitt MA, Martin CA, Olesevich M, et al. Hirschsprung disease and fecal incontinence: diagnostic and management strategies. J Pediatr Surg. 2009;44:271-7.[Abstract]
56. Allin BSR, Opondo C, Bradnock TJ, et al. Outcomes at five to eight years of age for children with Hirschsprung's disease. Arch Dis Child. 2020 Nov 2;:.[Abstract][Full Text]
57. Dai Y, Deng Y, Lin Y, et al. Long-term outcomes and quality of life of patients with Hirschsprung disease: a systematic review and meta-analysis. BMC Gastroenterol. 2020 Mar 12;20(1):67.[Abstract][Full Text]
58. Ruttenstock E, Puri P. Systematic review and meta-analysis of enterocolitis after one-stage transanal pull-through procedure for Hirschsprung's disease. Pediatr Surg Int. 2010;26:1101-5.[Abstract]
59. Peña A, Elicevik M, Levitt MA. Reoperations in Hirschsprung disease. J Pediatr Surg. 2007;42:1008-13.[Abstract]