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KEY POINTS
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Key Points

  • One of the most common causes of intestinal obstruction in the newborn. Characterized by severe constipation due to functional colonic obstruction with megacolon.

  • Hirschsprung's disease rarely presents prenatally, but when it does it is usually due to total colonic aganglionosis.

  • Sonographic features may include dilated loops of small intestine occasionally with enterolithiasis.

  • About a quarter of affected patients have associated anomalies. There is a strong association with Down syndrome.

  • Hirschsprung's disease diagnosed prenatally is at increased risk for syndromic associations by being long segment aganglionosis.

  • Level II sonogram and antenatal karyotype are recommended.

  • Diagnosis requires postnatal rectal biopsy to confirm aganglionosis.

  • Treatment is a pull-through procedure to bring normal ganglionated bowel to the dentate line.

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CONDITION
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Hirschsprung's disease is one of the most common causes of intestinal obstruction in newborns (Richardson and Brown, 1989; Kleinhaus and Boley, 1993). It usually presents as a low intestinal obstruction without sepsis. In the least severe cases, delayed passage of meconium may be the only abnormality (Potter, 1989; de Lorijn et al., 2007). In more severe cases, the neonate presents with abdominal distention and bilious or feculent vomiting, in addition to failure to pass meconium. In its most serious form, infants present with overwhelming sepsis due to enterocolitis; a smaller number will present with peritonitis from perforation of a normal intestine proximal to the aganglionic segment. The age at diagnosis varies considerably, but half of the cases are diagnosed during the newborn period, 75% within 3 months, and 80% within the first year of life (Ikeda and Goto, 1984; Rowe et al., 1995).

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Hirschsprung's disease is characterized by severe constipation due to functional colonic obstruction with megacolon. The condition bears the name of Harald Hirschsprung, a Danish pediatrician, who in 1888 described the autopsy findings of two unrelated infants who died with congenital megacolon. While at least 12 cases had been reported prior to 1888, Hirschsprung's complete description of the clinical and postmortem findings resulted in his name becoming attached to the condition. Hirschsprung focused his attention on the dilated hypertrophied megacolon, but the underlying abnormality was not determined until 1920, when Dalla Valle reported the absence of ganglion cells in the Auerbach plexus in the nondilated transition zone. The absence of ganglion cells in the distal nondilated segment involves the Auerbach plexus (myenteric), the Henle (deep submucosal), and the Meissner plexuses (submucosal) (Skandalakis and Gray, 1994). The dilated proximal segment of colon ends in a funnel-shaped transition zone, which tapers into the narrowed, patent, but functionally obstructed distal segment. This distal segment is usually normal in caliber and appears narrow only compared to the proximal megacolon (Figure 75-1). The peristalsis of the proximal normal colon tends to dilate the proximal aganglionic segment, and so the transition zone is part of the aganglionic segment.

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Figure 75-1

Barium enema ...

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