History
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During the newborn period, infants affected with Hirschsprung disease may present with abdominal distention, failure of passage of meconium within the first 48 hours of life, and repeated vomiting. A family history of a similar condition is present in about 30% of cases.
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Nearly one half of all infants with Hirschsprung disease have a history of delayed first passage of meconium (beyond age 36 h), and nearly one half of infants with delayed first passage of meconium have Hirschsprung disease.
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Unlike children experiencing functional constipation, children with Hirschsprung disease rarely experience soiling and overflow incontinence.
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Children with Hirschsprung disease may be malnourished. Poor nutrition results from the early satiety, abdominal discomfort, and distention associated with chronic constipation.
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Older infants and children typically present with chronic constipation. This constipation often is refractory to usual treatment protocols and may require daily enema therapy.
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Hirschsprung enterocolitis can be a fatal complication of Hirschsprung disease. Enterocolitis typically presents with abdominal pain, fever, foul-smelling and/or bloody diarrhea, as well as vomiting. If not recognized early, enterocolitis may progress to sepsis, transmural intestinal necrosis, and perforation.
Physical
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Examination of infants affected with Hirschsprung disease reveals tympanitic abdominal distention and symptoms of intestinal obstruction. Individuals in this age group may also present with acute enterocolitis or with neonatal meconium plug syndrome.
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Children with Hirschsprung disease are usually diagnosed by age 2 years.
Older infants and children with Hirschsprung disease usually present with chronic constipation. Upon abdominal examination, these children may demonstrate marked abdominal distention with palpable dilated loops of colon. Rectal examination commonly reveals an empty rectal vault and may result in the forceful expulsion of fecal material upon completion of examination.
Less commonly, older children with Hirschsprung disease may be chronically malnourished and/or present with Hirschsprung enterocolitis.
Causes
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Genetic causes
The disease is generally sporadic, although incidence of familial disease has been increasing.
Multiple loci appear to be involved, including chromosomes 13q22, 21q22, and 10q.
Mutations in the Ret proto-oncogene have been associated with multiple endocrine neoplasia (MEN) 2A or MEN 2B and familial Hirschsprung disease. [2, 3]
Other genes associated with Hirschsprung disease include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene.
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Associated conditions
Hirschsprung disease is strongly associated with Down syndrome; 5-15% of patients with Hirschsprung disease also have trisomy 21.
Other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.
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Abdominal radiograph demonstrating small bowel obstruction and megacolon in infant with Hirschsprung Disease.
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Barium enema demonstrating transition zone. The transition zone shows the transition from dilated, normally innervated bowel to normal caliber, noninnervated bowel.
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Intraoperative finding in total colonic aganglionosis. Note the decompressed bowel adjacent to the distended colon.
