Close
New

Medscape is available in 5 Language Editions – Choose your Edition here.

 

Pediatric Hirschsprung Disease Clinical Presentation

  • Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD  more...
 
Updated: May 30, 2014
 

History

See the list below:

  • During the newborn period, infants affected with Hirschsprung disease may present with abdominal distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A family history of a similar condition is present in about 30% of cases.
  • Nearly one half of all infants with Hirschsprung disease have a history of delayed first passage of meconium (beyond age 36 h), and nearly one half of infants with delayed first passage of meconium have Hirschsprung disease.
  • Unlike children experiencing functional constipation, children with Hirschsprung disease rarely experience soiling and overflow incontinence.
  • Children with Hirschsprung disease may be malnourished. Poor nutrition results from the early satiety, abdominal discomfort, and distention associated with chronic constipation.
  • Older infants and children typically present with chronic constipation. This constipation often is refractory to usual treatment protocols and may require daily enema therapy.
  • Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease. Enterocolitis typically presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea, as well as vomiting. If not recognized early, enterocolitis may progress to sepsis, transmural intestinal necrosis, and perforation.
Next

Physical

See the list below:

  • Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal distention and symptoms of intestinal obstruction. Individuals in this age group may also present with acute enterocolitis or with neonatal meconium plug syndrome.
  • Children with Hirschsprung disease are usually diagnosed by age 2 years.
    • Older infants and children with Hirschsprung disease usually present with chronic constipation. Upon abdominal examination, these children may demonstrate marked abdominal distention with palpable dilated loops of colon. Rectal examination commonly reveals an empty rectal vault and may result in the forceful expulsion of fecal material upon completion of examination.
    • Less commonly, older children with Hirschsprung disease may be chronically malnourished and/or present with Hirschsprung enterocolitis.
Previous
Next

Causes

See the list below:

  • Genetic causes
    • The disease is generally sporadic, although incidence of familial disease has been increasing.
    • Multiple loci appear to be involved, including chromosomes 13q22, 21q22, and 10q.
    • Mutations in the Ret proto-oncogene have been associated with multiple endocrine neoplasia (MEN) 2A or MEN 2B and familial Hirschsprung disease.[2, 3]
    • Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene.
  • Associated conditions
    • Hirschsprung disease is strongly associated with Down syndrome; 5-15% of patients with Hirschsprung disease also have trisomy 21.
    • Other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.
Previous
 
 
Contributor Information and Disclosures
Author

Holly L Neville, MD Associate Professor of Clinical Surgery, Division of Pediatric Surgery, University of Miami, Leonard M Miller School of Medicine

Holly L Neville, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association of Women Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Carmen Cuffari, MD Associate Professor, Department of Pediatrics, Division of Gastroenterology/Nutrition, Johns Hopkins University School of Medicine

Carmen Cuffari, MD is a member of the following medical societies: American College of Gastroenterology, American Gastroenterological Association, North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, Royal College of Physicians and Surgeons of Canada

Disclosure: Received honoraria from Prometheus Laboratories for speaking and teaching; Received honoraria from Abbott Nutritionals for speaking and teaching.

Additional Contributors

Hisham Nazer, MB, BCh, FRCP, , DTM&H Professor of Pediatrics, Consultant in Pediatric Gastroenterology, Hepatology and Clinical Nutrition, University of Jordan Faculty of Medicine, Jordan

Hisham Nazer, MB, BCh, FRCP, , DTM&H is a member of the following medical societies: American Association for Physician Leadership, Royal College of Paediatrics and Child Health, Royal College of Surgeons in Ireland, Royal Society of Tropical Medicine and Hygiene, Royal College of Physicians and Surgeons of the United Kingdom

Disclosure: Nothing to disclose.

Acknowledgements

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Charles Cox Jr, MD, to the development and writing of this article.

References
  1. 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. [Medline].

  2. Machens A, Hauptmann S, Dralle H. Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10. Endocr Relat Cancer. 2008 Oct 20. [Medline].

  3. Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27. 367(6461):378-80. [Medline].

  4. Emir H, Akman M, Sarimurat N, et al. Anorectal manometry during the neonatal period: its specificity in the diagnosis of Hirschsprung's disease. Eur J Pediatr Surg. 1999 Apr. 9(2):101-3. [Medline].

  5. Castle S, Suliman A, Shayan K, Kling K, Bickler S, Losasso B. Total colonic aganglionosis with skip lesions: report of a rare case and management. J Pediatr Surg. 2012 Mar. 47(3):581-4. [Medline].

  6. de Arruda Lourenção PL, Takegawa BK, Ortolan EV, Terra SA, Rodrigues MA. A useful panel for the diagnosis of Hirschsprung disease in rectal biopsies: calretinin immunostaining and acetylcholinesterase histochesmistry. Ann Diagn Pathol. 2013 Aug. 17(4):352-6. [Medline].

  7. Wildhaber BE, Pakarinen M, Rintala RJ, Coran AG, Teitelbaum DH. Posterior myotomy/myectomy for persistent stooling problems in Hirschsprung's disease. J Pediatr Surg. 2004 Jun. 39(6):920-6; discussion 920-6. [Medline].

  8. 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. [Medline].

  9. Garrett KM, Levitt MA, Peña A, Kraus SJ. Contrast enema findings in patients presenting with poor functional outcome after primary repair for Hirschsprung disease. Pediatr Radiol. 2012 Apr 19. [Medline].

  10. Belknap WM. Hirschsprung's Disease. Curr Treat Options Gastroenterol. 2003 Jun. 6(3):247-256. [Medline].

  11. Fujimoto T, Hata J, Yokoyama S, Mitomi T. A study of the extracellular matrix protein as the migration pathway of neural crest cells in the gut: analysis in human embryos with special reference to the pathogenesis of Hirschsprung's disease. J Pediatr Surg. 1989 Jun. 24(6):550-6. [Medline].

  12. Hackam DJ, Filler RM, Pearl RH. Enterocolitis after the surgical treatment of Hirschsprung's disease: risk factors and financial impact. J Pediatr Surg. 1998 Jun. 33(6):830-3. [Medline].

  13. Ikeda K, Goto S. Diagnosis and treatment of Hirschsprung's disease in Japan. An analysis of 1628 patients. Ann Surg. 1984 Apr. 199(4):400-5. [Medline].

  14. Kaplan P, de Chaderevian JP. Piebaldism-Waardenburg syndrome: histopathologic evidence for a neural crest syndrome. Am J Med Genet. 1988 Nov. 31(3):679-88. [Medline].

  15. Langer JC. Persistent obstructive symptoms after surgery for Hirschsprung's disease: development of a diagnostic and therapeutic algorithm. J Pediatr Surg. 2004 Oct. 39(10):1458-62. [Medline].

  16. Polley TZ, Coran, AG. Hirschsprung's disease in the newborn. Pediatric Surg. 1986. 1:80-3.

  17. Puffenberger EG, Kauffman ER, Bolk S, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. 1994 Aug. 3(8):1217-25. [Medline].

  18. Reding R, de Ville de Goyet J, Gosseye S, et al. Hirschsprung's disease: a 20-year experience. J Pediatr Surg. 1997 Aug. 32(8):1221-5. [Medline].

  19. Roed-Petersen K, Erichsen G. The Danish pediatrician Harald Hirschsprung. Surg Gynecol Obstet. 1988 Feb. 166(2):181-5. [Medline].

  20. Swenson O, Sherman JO, Fisher JH. Diagnosis of congenital megacolon: An analysis of 501 patients. J Pediatr Surg. 1973. 8:587-594. [Medline].

  21. Tiryaki T, Demirbag S, Atayurt H, Cetinkursun S. Topical nitric oxide treatment after pull through operations for Hirschsprung disease. J Pediatr Gastroenterol Nutr. 2005 Mar. 40(3):390-2. [Medline].

  22. Wartiovaara K, Salo M, Sariola H. Hirschsprung's disease genes and the development of the enteric nervous system. Ann Med. 1998 Feb. 30(1):66-74. [Medline].

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

Previous
Next
 
Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease.
Barium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally innervated bowel to normal caliber, noninnervated bowel.
Intraoperative finding in total colonic aganglionosis. Note the decompressed bowel adjacent to the distended colon.
 
 
 
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.