Hirschsprung Disease Workup

  • Author: Steven L Lee, MD; Chief Editor: Julian Katz, MD   more...
 
Updated: Jan 5, 2012
 

Laboratory Studies

  • Chemistry panel: For most patients, electrolyte and renal panel findings are within reference ranges. Children presenting with diarrhea may have findings consistent with dehydration. Test results may aid in directing fluid and electrolyte management.
  • CBC count: This test is obtained to ensure that the preoperative hematocrit and platelet count are suitable for surgery. In most cases, values are within reference ranges.
  • Coagulation studies: These studies are obtained to ensure that clotting disorders are corrected before surgery. Again, values are expected to be within reference ranges.
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Imaging Studies

  • Plain abdominal radiographs may show distended bowel loops with a paucity of air in the rectum.
  • Barium enema
    • Avoid washing out the distal colon with enemas before obtaining the contrast enema because this may distort a low transition zone.
    • The catheter is placed just inside the anus, without inflation of the balloon, to avoid distortion of a low transition zone and the risk of perforation.
    • Radiographs are taken immediately after hand injection of contrast and again 24 hours later.
    • A narrowed distal colon with proximal dilation is the classic finding of Hirschsprung disease after a barium enema. However, findings in neonates (ie, babies aged < 1 mo) are difficult to interpret and will fail to demonstrate this transition zone approximately 25% of the time.[23]
    • Another radiographic finding suggestive of Hirschsprung disease is the retention of contrast for longer than 24 hours after the barium enema has been performed.
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Other Tests

  • Anorectal manometry
    • Anorectal manometry detects the relaxation reflex of the internal sphincter after distension of the rectal lumen. This normal inhibitory reflex is thought to be absent in patients with Hirschsprung disease.[24]
    • Swenson initially used this test. In the 1960s, it was refined but has fallen into disfavor because of its many limitations. A normal physiological state is required, and sedation is also usually necessary. Although some authors find this test quite useful, false-positive results have been reported in up to 62% of cases, and false-negative results have been reported in up to 24% of cases.
    • Because of these limitations and questionable reliability, anorectal manometry is not commonly used in the United States.
  • Because cardiac malformation (2-5%) and trisomy 21 (5-15%) are associated with congenital aganglionosis, cardiac evaluation and genetic testing may be warranted.
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Procedures

  • Rectal biopsy
    • The definitive diagnosis of Hirschsprung disease is confirmed by rectal biopsy, ie, findings that indicate an absence of ganglion cells.
    • The definitive method for obtaining tissue for pathologic examination is by a full-thickness rectal biopsy.
    • The specimen must be obtained at least 1.5 cm above the dentate line because aganglionosis may normally be present below this level.
    • Disadvantages include the potential for bleeding and scarring and the usual need for general anesthesia during full-thickness biopsy procedures.
  • Simple suction rectal biopsy
    • More recently, simple suction rectal biopsy has been used to obtain tissue for histologic examination.
    • Rectal mucosa and submucosa are sucked into the suction device, and a self-contained cylindrical knife cuts off the tissue.
    • The distinct advantage of the suction biopsy is that it can be easily performed at the bedside.
    • However, pathologically diagnosing Hirschsprung disease from samples obtained by suction biopsies is considerably more difficult than pathologically diagnosing Hirschsprung disease from samples obtained by a full-thickness biopsy.
    • Ease of diagnosis has been improved with the use of acetylcholinesterase staining, which intensely stains the hypertrophied nerve fibers throughout the lamina propria and muscularis propria.
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Histologic Findings

Both the myenteric (Auerbach) plexus and the submucosal (Meissner) plexus are absent from the muscular layer of the bowel wall. Hypertrophied nerve trunks enhanced with acetylcholinesterase stain are also observed throughout the lamina propria and muscularis propria. More recently, immunohistochemistry with calretinin has also been used for histologic examination of aganglionic bowel, and preliminary studies have suggested that it might be more accurate than acetylcholinesterase in detecting aganglionosis.[25, 26]

Guinard-Samuel et al evaluated the diagnostic value of calretinin immunochemistry for Hirschsprung disease in 131 pediatric rectal biopsies.[26] Of 131 biopsies, 130 were accurately diagnosed based on calretinin staining. When an additional 12 cases were considered doubtful based on the standard evaluation method, they were accurately diagnosed with calretinin immunochemistry.[26] One false-negative case was that of Hirschsprung disease with a calretinin-positive biopsy. The investigators found calretinin superior to acetylcholinesterase to complete histology.

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Contributor Information and Disclosures
Author

Steven L Lee, MD  Chief of Pediatric Surgery, Harbor-UCLA Medical Center; Associate Clinical Professor of Surgery and Pediatrics; University of California, Los Angeles, David Geffen School of Medicine

Steven L Lee, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, Association for Academic Surgery, International Pediatric Endosurgery Group, Pacific Association of Pediatric Surgery, Society of American Gastrointestinal and Endoscopic Surgeons, and Society of Laparoendoscopic Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Shant Shekherdimian, MD, MPH  Resident Physician, Department of Surgery, University of California, Los Angeles, David Geffen School of Medicine

Disclosure: Nothing to disclose.

Jeffrey J DuBois, MD  Chief of Children's Surgical Services, Division of Pediatric Surgery, Kaiser Permanente, Women and Children's Center, Roseville Medical Center

Jeffrey J DuBois, MD, is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Surgeons, American Pediatric Surgical Association, and California Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Vivek V Gumaste, MD  Associate Professor of Medicine, Mount Sinai School of Medicine of New York University; Adjunct Clinical Assistant, Mount Sinai Hospital; Director, Division of Gastroenterology, City Hospital Center

Vivek V Gumaste, MD is a member of the following medical societies: American College of Gastroenterology and American Gastroenterological Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Oscar S Brann, MD, FACP  Associate Clinical Professor, Department of Medicine, University of California at San Diego; Consulting Staff, Mecklenburg Medical Group

Oscar S Brann, MD, FACP is a member of the following medical societies: American Gastroenterological Association

Disclosure: Nothing to disclose.

Alex J Mechaber, MD, FACP  Senior Associate Dean for Undergraduate Medical Education, Associate Professor of Medicine, University of Miami Miller School of Medicine

Alex J Mechaber, MD, FACP is a member of the following medical societies: Alpha Omega Alpha, American College of Physicians-American Society of Internal Medicine, and Society of General Internal Medicine

Disclosure: Nothing to disclose.

Chief Editor

Julian Katz, MD  Clinical Professor of Medicine, Drexel University College of Medicine

Julian Katz, MD is a member of the following medical societies: American College of Gastroenterology, American College of Physicians, American Gastroenterological Association, American Geriatrics Society, American Medical Association, American Society for Gastrointestinal Endoscopy, American Society of Law, Medicine & Ethics, American Trauma Society, Association of American Medical Colleges, and Physicians for Social Responsibility

Disclosure: Nothing to disclose.

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Hirschsprung disease. Contrast enema demonstrating transition zone in the rectosigmoid region.
 
 
 
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