Rectal Biopsy in the Investigation of Constipation
Abstract & Commentary
Synopsis: Rectal biopsy is unnecessary in the investigation of a child whose symptoms of constipation began after 4 weeks of age.
Source: Ghosh A, Griffiths DM. Rectal biopsy in the investigation of constipation. Arch Dis Child 1998;79:266-268.
A retrospective review of 141 children who had 186 rectal biopsies for possible Hirschprung’s disease compared the histology with the age of onset of symptoms of constipation. Seventeen of 141 children had histologically proven Hirschprung’s disease as indicated by an absence of parasympathetic ganglia and the presence of hypertrophied nerve trunks in the bowel wall. All 17 of these children had the onset of symptoms before the age of 4 weeks. Three children were referred for evaluation and biopsy after the neonatal period, but all three had the onset of symptoms before 4 weeks of age. Almost half of the children who had delayed passage of meconium for more than 48 hours had rectal biopsies consistent with Hirschprung’s disease.
Comment by A. Craig Hillemeier, MD, FAAP
This study makes a point that has been made previously, but it is an important diagnostic point that certainly bears reinforcing. Most patients with Hirschprung’s disease have evidence of constipation or intestinal obstruction in the newborn period. A suction rectal biopsy can be performed without the use of sedation and is associated with a low morbidity. However, approximately 10% of the time, the suction biopsy is inadequate or unsuccessful and the patient must then have an open biopsy under general anesthesia.
For the typical child who presents with severe constipation around the age of toilet training, it is rarely appropriate to consider performing a rectal biopsy to rule out a diagnosis of Hirschprung’s disease, even in an older patient with severe constipation and a digital examination that fails to show stool in the rectal bulb. It is uncommon for patients with Hirschprung’s disease to have a history of fecal soiling. The stools of patients with Hirschprung’s disease are not large and are often thin.
Our understanding of the pathogenesis of Hirschprung’s disease has advanced considerably during the past 10 years. In rat and mouse models of Hirschprung’s disease, rectal cells have been found to be deficient in cell surface receptors such as endothelin; however, only a small number of patients have been found to have the same precise defect. Investigative efforts continue to unlock the mystery of why the neurons fail to migrate into the distal colons of these patients.
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