Pediatric Hirschsprung Disease Differential Diagnoses

  • Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD   more...
 
Updated: May 8, 2012
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Holly L Neville, MD  Assistant Professor of Clinical Surgery, Division of Pediatric Surgery, University of Miami 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, and Association of Women Surgeons

Disclosure: Nothing to disclose.

Specialty Editor Board

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

Hisham Nazer, MB, BCh, FRCP, DCh, DTM&H is a member of the following medical societies: Royal College of Paediatrics and Child Health, Royal College of Physicians, Royal College of Surgeons in Ireland, Royal College of Surgeons of Edinburgh, and Royal Society of Tropical Medicine and Hygiene

Disclosure: Nothing to disclose.

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.

Steven M Schwarz, MD, FAAP, FACN, AGAF  Professor of Pediatrics, Children's Hospital at Downstate, State University of New York Downstate Medical Center

Steven M Schwarz, MD, FAAP, FACN, AGAF is a member of the following medical societies: American Academy of Pediatrics, American College of Nutrition, American College of Physician Executives, American Gastroenterological Association, American Pediatric Society, Gastroenterology Research Group, New York Academy of Medicine, North American Society for Pediatric Gastroenterology and Nutrition, and Society for Pediatric Research

Disclosure: Curemark, LLC Consulting fee Board membership; Centocor, Inc. Grant/research funds Independent contractor; Johnson & Johnson, Inc. Grant/research funds Independent contractor

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, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Additional Contributors

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. Apr 2005;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. Oct 20 2008;[Medline].

  3. Edery P, Lyonnet S, Mulligan LM, et al. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. Jan 27 1994;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. Apr 1999;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. Mar 2012;47(3):581-4. [Medline].

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

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

  8. 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. Apr 19 2012;[Medline].

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

  10. 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. Jun 1989;24(6):550-6. [Medline].

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

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

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

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

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

  16. 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. Aug 1994;3(8):1217-25. [Medline].

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

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

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

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

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

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

 
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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.
 
 
 
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