Assessment for Hirschsprung disease in infants and young children

HAEC: Hirschsprung-associated enterocolitis.

* For more details on the evaluation and management of HAEC, refer to UpToDate content on emergency complications of Hirschsprung disease.

¶ Disimpaction is warranted if the lower rectum is dilated with large stool burden. If needed, disimpaction can be done by manual evacuation of impacted hard stool (if palpable within rectal vault) or rectal administration of enemas or suppositories.

Δ Selection of diagnostic tests depends on clinician preference and locally available resources. Considerations include:

• In our practice, we generally perform a contrast enema as the initial diagnostic procedure. If a clear transition zone is seen, the study is virtually pathognomonic of Hirschsprung disease and helps the surgeon plan the level of resection preoperatively. We always confirm the diagnosis by preoperative suction biopsy or intraoperative full-thickness biopsy even when the contrast enema shows typical features of Hirschsprung disease. If a transition zone is not seen on contrast enema, Hirschsprung disease cannot be entirely excluded. For example, a contrast enema may have false-negative results if performed within 24 hours of a digital rectal examination.
• Some clinicians proceed to a rectal suction biopsy without a contrast enema. If ganglia are seen in an appropriately performed suction biopsy, Hirschsprung disease is excluded. Lack of ganglia on the suction biopsy is suspicious for Hirschsprung disease, but the diagnosis may have to be confirmed by a full-thickness rectal biopsy if the pathologist considers the suction biopsy to be an inadequate sample.
• Other clinicians start with anorectal manometry (for children >1 month of age due to low accuracy in newborns). Normal results of anorectal manometry can exclude Hirschsprung disease, but abnormal results should be confirmed by biopsy.

◊ Infants and children with probable functional constipation should be treated for constipation and observed. If constipation persists despite treatment, the evaluation for Hirschsprung disease should be completed (if not already done).

§ A moderate level of suspicion is also warranted for neonates with well-documented delay in passing meconium but no other signs, symptoms, or risk factors for Hirschsprung disease. Practice varies regarding the evaluation of these infants. At a minimum, they should undergo a careful physical examination and exclusion of other causes of delayed passage of meconium, including anorectal malformations, and should be closely observed and evaluated promptly for Hirschsprung disease if they develop symptoms of constipation or abdominal distension.

¥ The "squirt sign" is a forceful expulsion of gas and stool as the finger is withdrawn from the anus after the digital rectal examination, particularly in infants.