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Constipation in Childhood: Hirschsprung’s disease

Hirschsprung’s disease is the result of congenital absence of the parasympathetic ganglion cells of the intramural plexus of the distal colon and rectum. This defect leads to persistent contraction of the affected bowel segment. Typical Hirschsprung’s disease is easily distinguished from idiopathic constipation. Infants with Hirschsprung’s disease exhibit delayed passage of meconium and infrequent stools. This, associated with marked abdominal distention and progressive vomiting of bile, presents a classic picture of bowel obstruction. The rectum is empty and withdrawal of the examining finger is often followed by an explosive discharge of stool and gas. Rarely, the presentation is atypical and the diagnosis is delayed for several years. Features that differentiate chronic constipation from Hirschsprung’s disease are summarized in Table 1. Infants with this disease are always at risk of developing severe, life-threatening enterocolitis.

Ultra-short segment Hirschsprung’s disease is a controversial entity said to be clinically identical to chronic constipation. If it exists at all, it is extremely rare. It is believed to be diagnosed only by rectal ma-nometry, but the reliability of this method to diagnose any form of Hirschsprung’s disease has been questioned.

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Table 1. Clinical Differences Between Hirschsprung’s Disease And Chronic Constipation With Fecal Retention
Clinical Characteristics Hirschsprung’s Disease Chronic Constipation
HISTORY
From birth Always Rare
Enterocolitis Possible Never
Rectal bleeding None Possible
Problems with bowel training Rare Common
Fecal soiling None Common
Size of stool Normal or small Huge
Failure to thrive Common Uncommon
Abdominal pain Uncommon Common
GENERAL EXAMINATION
Malnutrition Common Absent
Abdominal distention Usual Rare
Abdominal fecal mass Rare Common
Anal fissure Never Possible
RECTAL EXAMINATION
Anal tone Increased Variable
Fecal mass Never Very common
Explosive discharge of feces and gas after withdrawal of finger Common Never

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