Untitled Document

Hirschsprung Disease: A Clinical Case Presentation
By Leslie Kimura
University of Virginia School of Medicine

Class of 2010

Clinical History:

A two day old, full term infant male has yet to pass meconium (first stool) and has had several episodes of vomiting, His abdomen is distended on exam and his anus is found to be patent.  A plain abdominal film shows bowel distention (Figure 1), and an unprepared single-contrast barium enema shows a dilated colon and then a thin segment or transition zone in the sigmoid colon (Figure 2).  What condition does this patient have?

Figure 1

Figure 2

Figure 1: Plain abdominal film showing bowel distention Figure 2: Barium enema showing dilated colon with a narrowed segment in the sigmoid colon


Discussion:

This patient suffers from Hirschsprung Diesease, which was first described in 1886 as a cause of newborn constipation.  The disease is caused by the failure of ganglionic cells in the myenteric plexus to migrate down to the colon and rectum during development.  This results in an aganglionic segment, which is seen on biopsy and is the definitive diagnosis for Hirschsprung Disease (Figure 3).  Because there are no ganglionic cells to support the nerves in the affected segment, the bowel is not able to function properly and stool will back up leading to dilation of the preceding bowel.

Figure3

Figure 3: Biopsy from a Hirschsprung colon.

Figure 4

Figure 4: Biopsy from a normal colon. The black box is surrounding ganglion cells of the myenteric plexus that are absent in figure 3.

Most infants with Hirschsprung Disease will present with the failure to pass meconium within the first two days of life.  The clinical presentation of bowel obstruction (abdominal distention, vomiting, etc.) is also classic, and there can be a family history of the condition. Children who present later in life often have a history of chronic constipation.  Males are more commonly affected than females, and this disease affects an estimated 1 in 5,000 live births.  There is a strong association with Down's Syndrome, affecting as many as 5-15% of patients with Hirschsprung Disease.

The imaging studies performed above (plain abdominal film and unprepared single-contrast barium enema) help to guide the physician when refining the differential diagnosis.  The narrowing seen on the barium enema represents the transitional zone between the normally innervated dilated segment and the abnormally innervated thin segment.  This finding is fairly diagnostic, but must be confirmed with a biopsy.

One of the major causes of mortality with this condition is enterocolitis, which is an infection of the bowel that can lead to perforation and sepsis.  These patients are treated with antibiotics and are closely monitored for signs of infection. The treatment for Hirschsprung Disease is surgical, performed in either one or two steps.  The affected bowel is resected and either pulled through to the anus immediately or deferred to a colostomy and later pulled through.  The outcome and prognosis for these patients is very good. 

A gross image of resected Hirshcsprung bowel can be viewed at:
http://www.pathconsultddx.com/pathCon/diagnosis?pii=S1559-8675%2806%2970813-0

An excellent article on Hirschsprung Disease can be found at: http://emedicine.medscape.com/article/929733-overview