eMedicine Specialties > Pediatrics: General Medicine > Gastroenterology

Hirschsprung Disease: Differential Diagnoses & Workup

Author: Holly L Neville, MD, Assistant Professor of Clinical Surgery, Division of Pediatric Surgery, University of Miami Miller School of Medicine
Contributor Information and Disclosures

Updated: Nov 17, 2008

Differential Diagnoses

Constipation

Other Problems to Be Considered

Intestinal neuronal dysplasia
Meconium plug syndrome
Neonatal small left colon syndrome
Hypoganglionosis

Workup

Laboratory Studies

  • CBC count: Order this test if enterocolitis is suspected. Elevation of WBC count or a bandemia should raise concern for enterocolitis.

Imaging Studies

  • Plain abdominal radiography: Perform this test with any signs or symptoms of abdominal obstruction.
  • Unprepared single-contrast barium enema: If perforation and enterocolitis are not suspected, an unprepared single-contrast barium enema may help establish the diagnosis by identifying a transition zone between a narrowed aganglionic segment and a dilated and normally innervated segment. The study may also reveal a nondistensible rectum, which is a classic sign of Hirschsprung disease. A transition zone may not be apparent in neonates, because of insufficient time to develop colonic dilation, or in infants who have undergone rectal washouts, examinations, or enemas.

Other Tests

  • Rectal manometry: In older children who present with chronic constipation and an atypical history for either Hirschsprung disease or functional constipation, anorectal manometry can be helpful in making or excluding the diagnosis.4 Children with Hirschsprung disease fail to demonstrate reflex relaxation of the internal anal sphincter in response to inflation of a rectal balloon.

Procedures

  • The definitive diagnosis of Hirschsprung disease rests on histological review of rectal tissue.
    • Obtain tissue either by suction rectal biopsy or transanal wedge resection. If a suction biopsy is performed, take the biopsy 2-2.5 cm above the dentate line on the posterior wall to minimize the risk of perforation.
    • Carefully examine biopsy specimens for the presence or absence of ganglion cells in the submucous plexus (suction rectal biopsy) or myenteric plexuses (transanal wedge resection).
  • In the hands of an experienced pathologist, the resulting biopsy and absence of ganglion cells confirm the diagnosis and allow the initiation of treatment. Skip lesions of aganglionosis have been reported in cases of Hirschsprung disease.
  • Acetylcholinesterase staining of the tissue can be performed to assist with the pathologic assessment. Acetylcholinesterase staining identifies the hypertrophy of extrinsic nerves trunks. In short-segment Hirschsprung disease, the diagnosis can be made with a properly placed rectal suction biopsy alone or in combination with anorectal manometry.

Histologic Findings

  • Histologic findings include the absence of ganglion cells in the myenteric plexus and hypertrophic extrinsic nerve fibers.

More on Hirschsprung Disease

Overview: Hirschsprung Disease
Differential Diagnoses & Workup: Hirschsprung Disease
Treatment & Medication: Hirschsprung Disease
Follow-up: Hirschsprung Disease
Multimedia: Hirschsprung Disease
References
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References

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  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. 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].

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Further Reading

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Keywords

Hirschsprung disease, Hirschsprung's disease, Hirschsprung enterocolitis, Hirschsprung's enterocolitis, congenital aganglionosis, congenital megacolon, megacolon congenitum, Hirschsprung's disease, enterocolitis, abdominal distention, outflow incontinence, transmural intestinal necrosis, intestinal perforation, neonatal meconium plug syndrome, multiple endocrine neoplasia, MEN, Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, intestinal atresia

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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.

Medical Editor

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
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.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

CME Editor

Steven M Schwarz, MD, FAAP, FACN, AGAF, Professor of Pediatrics, State University of New York, Downstate Medical Center College of Medicine; Distinguished Lecturer, New York Medical College, School of Public Health
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: TAP Pharmaceuticals Honoraria Speaking and teaching; Curemark, LLC Consulting fee Board membership

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.

 
 
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