Pediatric Hirschsprung Disease Workup

Updated: Aug 09, 2016
  • Author: Holly L Neville, MD; Chief Editor: Carmen Cuffari, MD  more...
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Workup

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

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  • Plain abdominal radiography: Perform this test with any signs or symptoms of abdominal obstruction.

    Abdominal radiograph demonstrating small bowel obs Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease.
    Barium enema demonstrating transition zone. The tr Barium 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.

Acetylcholinesterase staining and calretinin immunostaining may be helpful in making the diagnosis. Calretinin is helpful in ruling out Hirschsprung disease by staining the ganglion cells and intrinsic nerve tissue. Acetylcholinesterase, on the other hand, is helpful in confirming the diagnosis by demonstrating increased activity in the hypertrophied nerve trunks. [6]

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