Hirschsprung’s disease causes constipation, pain, and intestinal blockages. It is caused by a lack of nerve cells in the colon. Diagnosis can be difficult, but surgery is the most common treatment. Breastfeeding can aid in early diagnosis, but allergenic foods can delay it. Delayed diagnosis can lead to life-threatening infections and poor growth.
Hirschsprung’s disease is a congenital condition that can cause extreme constipation, pain, and a fatal intestinal blockage. Anemia, bloody stools, and diarrhea may also be noted with the condition. Surgery, although intensive, can treat the cause, and most children with Hirschsprung disease lead normal lives after surgery.
Hirschsprung’s disease manifests itself as a lack of proper nerve cells in the large intestine or colon. When the body fails to sense that the colon is filled with waste products, the intestines can back up. In infants this can be seen as infrequent bowel movements, which may be accompanied by painful spasms. Due to larger bowel movements, the sensitive skin around the anus can tear, resulting in bloody stools. Blood can also pool in the large intestine.
Hirschsprung disease is often difficult to diagnose in infants who are formula-fed. Sensitivity to ingredients in the formula often results in constipation and an upset stomach. It is often necessary to try different formulas before finding one that is easily digestible. The formula, while used by many parents, cannot replicate the ease of digestibility associated with human breast milk.
Babies with Hirschsprung’s disease who are exclusively breastfed are likely to receive an early diagnosis because, in theory, nothing should interfere with the baby’s digestion and passing of bowel movements while breastfeeding. In breastfed babies, bowel movements are usually quite soft and can occur several times a day. Lack of bowel movements should be reported to the pediatrician as this can also mean failure to thrive or other intestinal disorders.
In some cases, even with breastfed babies, the diagnosis of Hirschsprung disease is delayed because breast milk can be affected by the mother’s consumption of certain foods to which the baby may be sensitive. In these cases, the presence of constipation in a child can first be relieved by removing foods from the mother’s diet that could cause allergies in the child. Foods like milk, chocolate and coffee can all be suspects.
When the allergenic foods are removed and constipation is still present, pediatricians may refer your child to a pediatric gastroenterologist for further testing. The most common testing methods used are barium X-rays and cell biopsy. Cell biopsy, although more invasive, is the gold standard test because the doctor can note the absence of nerve cells and confirm Hirschsprung disease.
The normal treatment for a person with Hirschsprung’s disease is called pull through surgery. The non-functioning part of the intestine is removed and the areas of the intestine with normal cells are rejoined. This results in a healthy intestinal tract and has a high success rate.
Occasionally, children have developed a significant infection in their large intestines prior to the pull through surgery and must undergo a stoma. In this procedure, the infected part of the intestine is first removed and the fecal matter collects in a bag outside the body. This procedure is usually temporary and when the child regains health and strength, they will undergo the pull through.
Children who have not had Hirschsprung disease diagnosed early are at greater risk for life-threatening infections. They may also show poor growth and development and may vomit bile more frequently than healthy children. Symptoms of the infection can include increased vomiting, diarrhea, and high fever. If Hirschsprung’s disease is suspected, these symptoms require immediate medical attention.
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