Pediatric Hirschsprung Disease Workup

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

Laboratory Studies

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

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Imaging Studies

  • Plain abdominal radiography: Perform this test with any signs or symptoms of abdominal obstruction.Abdominal radiograph demonstrating small bowel obsAbdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease. Barium enema demonstrating transition zone. The trBarium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally innervated bowel to normal caliber, noninnervated bowel.
  • 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.
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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.

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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.[5]

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.

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Histologic Findings

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

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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

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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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