Hirschsprung Disease Clinical Presentation

Updated: Aug 02, 2018
  • Author: Justin P Wagner, MD; Chief Editor: BS Anand, MD  more...
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Presentation

History

The majority of Hirschsprung cases are sporadic. Approximately 10% of Hirschsprung patients have a family member who was also affected. This predisposition is more common in patients with longer-segment disease.

Prenatal ultrasonography demonstrating bowel obstruction is rare, except in cases of total colonic involvement. [42]

Hirschsprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor feeding, and failure to thrive.

Older children with Hirschsprung disease usually have chronic constipation since birth. They may also show evidence of poor weight gain.

Older presentation is more common in breastfed infants who will typically develop constipation around the time of weaning.

Despite significant constipation and abdominal distention, children with Hirschsprung disease rarely develop encopresis (fecal incontinence secondary to impacted stools). In contrast, children with functional constipation or stool-withholding behaviors more commonly develop encopresis.

About 10% of children present with diarrhea caused by enterocolitis, which is hypothesized to stem from stasis and bacterial overgrowth. This may progress to colonic perforation, causing life-threatening sepsis. [43]

In a study of 259 consecutive patients, Menezes and colleagues reported that 57% of patients presented with intestinal obstruction, 30% with constipation, 11% with enterocolitis, and 2% with intestinal perforation. [29]

Wu and colleagues developed a diagnostic scoring system for elements of the patient’s history. Risk factors identified include age younger than 3 years, failed or delayed passage of meconium, and male sex. Scaled scores indicating Hirschsprung disease predict the disease with a sensitivity of 83%, specificity of 90%, and accuracy of 86%. [44]

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Physical Examination

Physical examination in the newborn period is often nondiagnostic; however, it may reveal a distended abdomen and/or anal spasm. In older children, abdominal distention may result from the inability to release flatus.

A low imperforate anus with a perineal orifice may have a similar presentation to that of a patient with Hirschsprung disease. Meticulous physical examination is compulsory to distinguish the two.

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