Hirschsprung's disease

Hirschsprung's disease can present in three different forms , the first of which is the most frequent and characteristic of all:

• Intestinal obstruction in the newbornThe most frequent of all. Most children with Hirschsprung's disease (HD) present with intestinal obstruction within a few hours of life, characterized by abdominal distension.
• Bilious vomiting and absence of meconium passage. In some patients, intestinal perforation may be the initial symptom.
• Hepatitis-associated enterocolitisApproximately 10% of children with Hirschsprung's disease may present with fever, abdominal distension, and diarrhea at any age, outside the characteristic neonatal period. This is due to a severe intestinal infection known as Hirschsprung's-associated enterocolitis. This abdominal infection can cause sepsis (a systemic infection). Because HI is usually associated with constipation, the presence of diarrhea can be confusing. A careful history, including the absence of meconium passage and the presence of intermittent obstructive episodes, should raise suspicion of the diagnosis.
• Chronic constipation in older children, adolescents, or adultsSome patients with very short segment Hirschsprung's disease may be diagnosed late, during infancy or even adulthood. Because constipation is common in infancy, it can be difficult for the primary care physician or pediatrician to differentiate Hirschsprung's disease from other, more common causes of constipation. Clinical features suggestive of Hirschsprung's disease include absence of meconium in the first 48 hours of life, developmental delay, episodes of diarrhea, abdominal distension, and lack of improvement with standard laxatives.