Diagnostic Considerations

The differential diagnosis of childhood constipation can be extensive and may include Hirschsprung disease (ie, congenital megacolon), spinal or neuromuscular abnormalities (eg, spinal muscular atrophy, tethered cord, Currarino triad [rectal stenosis, hemi sacrum, presacral mass], cerebral palsy [static encephalopathy]), hypothyroidism, anal stenosis, imperforate anus with fistula, anterior displacement of the anus (this is a controversial diagnosis), allergy or sensitivity to cow's milk, and celiac disease. Other conditions to consider include mitochondrial disorders, neuronal intestinal dysplasia, and prune-belly syndrome.

Fortunately, in most cases in which an underlying condition causes constipation, other stigmata of the disorder point to diagnosis. For example, constipation is rarely the only symptom of hypothyroidism.

For practical purposes, in an otherwise healthy child, the differential diagnosis of chronic constipation is Hirschsprung disease and functional constipation (not Hirschsprung disease). Although differentiating these two disorders may sometimes be difficult, clues in the history and physical examination are helpful. The image below details the differences between functional constipation and Hirschsprung disease.

This table differentiates functional constipation from Hirschsprung disease.

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Differential Diagnoses

Workup

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Media Gallery

Plain abdominal radiograph that demonstrates stool throughout the colon.
This table differentiates functional constipation from Hirschsprung disease.
This unprepared single-contrast barium enema demonstrates a transition zone consistent with Hirschsprung disease.
The images illustrate normal anorectal manometry with relaxation of the internal anal sphincter in response to rectal distention.
This image delineates common withholding behaviors in young children.
Contrast enema of a patient with megasigmoid and impacted stool.
Contrast enema in a patient in whom the rectosigmoid was resected.
Position for enema administration in an infant.
Another position for enema administration.
Administration of an enema.
Incorrect enema administration. The enema is administered against stool impaction and cannot be successful.
Enema administration with a tube.
Enema with inflated Foley balloon catheter.
Administration of an enema against impacted stool.
Administration of an enema against fecal impaction.

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Pediatric Constipation Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

References

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