PEDIATRICS
HIRSCHSPRUNGDISEASEPatients with Hirschsprung disease have a segment of bowel that lacks normal
ganglion cell innervation in the myenteric and submucosal tissue. The
affected area always begins at the internal anal sphincter, and extends proxi-
mally for a variable distance. Eighty percent of patients have involvement
only of the rectosigmoid bowel. Affected bowel rarely extends proximally past
the splenic flexure. Ganglion cells normally oppose the tonic contractions of
the bowel. Portions of bowel without ganglion cells have unopposed contrac-
tion, potentially leading to obstruction of the large bowel. Normally inner-
vated bowel proximal to the obstruction becomes dilated. Males are affected
more frequently than females (4:1).SYMPTOMS/EXAM
■ Wide spectrum of disease, depending upon the length of involved bowel
■ Symptoms typically develop in the first few days to weeks of life.
■ The diagnosis should be considered in neonates who have delayed passage
of meconium or failure to pass meconium.
■ Hirschsprung disease may cause typical symptoms of colonic obstruction.
■ Enterocolitis (toxic megacolon) is the most feared complication of
Hirschsprung disease, and typically occurs in patients <2 years old.
■ Older patients, who typically have a shorter segment of affected bowel,
may present with abdominal distention, constipation, and failure to thrive.Toxic megacolon is the most
feared complication of
Hirschsprung disease and
typically occurs in patients
< 2 years old.FIGURE 5.16. Malrotation with volvulus.(Reproduced, with permission, from Brunicardi FC, Andersen DK, Billiar TR, et al. Schwartz’s
Principles of Surgery,8th ed. New York; McGraw-Hill, 2005:1489.)