Overview
Hirschsprung's disease is a congenital condition that affects the large intestine (colon), causing issues with passing stool. It results from a lack of nerve cells in the muscles of the baby's colon, leading to blockages in the bowel due to the inability of contents to move through the colon. Symptoms may include a newborn's failure to have a bowel movement within 48 hours after birth, swollen belly, vomiting, constipation, gas, and diarrhea. Surgery is typically required to bypass or remove the diseased part of the colon. The exact cause of Hirschsprung's disease is not clear, but it may be associated with genetic mutations and inherited conditions. Risk factors include having a sibling with the condition or being male.
Understanding the disease
Symptoms
The symptoms of Hirschsprung's disease can vary depending on the severity of the condition. In newborns, common symptoms include the failure to have a bowel movement within 48 hours after birth, a swollen belly, vomiting (including green or brown substances), constipation or gas, which might make the newborn fussy, diarrhea, and delayed passage of meconium (the newborn's first bowel movement). In older children, symptoms can include a swollen belly, chronic constipation, gas, failure to thrive, fatigue, and delay in growth and development. It is important to consult a healthcare provider if these symptoms are present.
Risk Factors
The risk factors for developing Hirschsprung's disease include:
- Having a sibling who has Hirschsprung's disease. Hirschsprung's disease can be inherited, and if one child has the condition, future biological siblings may be at risk.
- Being male, as the condition is more common in males.
- Having other inherited conditions, such as Down syndrome or congenital heart disease. It is not clear what causes Hirschsprung's disease in most cases, but it might be associated with a genetic mutation in some instances. The condition occurs when nerve cells in the colon don't form completely, leading to the lack of muscle contractions necessary for the proper movement of stool through the intestine.
Development
Hirschsprung's disease (HIRSH-sproongz) is a condition that affects the large intestine (colon) and causes problems with passing stool. The condition results from missing nerve cells in the muscles of the baby's colon, which prevent the gut muscles from being stimulated, leading to blockages in the bowel. In newborns, the most obvious sign of Hirschsprung's disease is the failure to have a bowel movement within 48 hours after birth. Other symptoms may include a swollen belly, vomiting, constipation or gas, diarrhea, and a delayed passage of meconium (newborn's first bowel movement). In older children, symptoms can include a swollen belly, chronic constipation, gas, failure to thrive, and fatigue. The exact cause of Hirschsprung's disease is not clear, but it can be inherited in some cases and associated with certain genetic mutations. Factors that may increase the risk of the disease include having a sibling with Hirschsprung's disease, being male, and having other inherited conditions like Down syndrome or congenital heart disease. Complications of Hirschsprung's disease include enterocolitis, a serious intestinal infection that requires immediate treatment.
Assessment and Diagnosis
Triage
You should see a doctor if Hirschsprung's disease is suspected, especially in a newborn who fails to have a bowel movement within 48 hours after birth or shows other signs and symptoms such as a swollen belly, vomiting, constipation, gas, diarrhea, or delayed passage of meconium. In older children, signs and symptoms may include chronic constipation, gas, failure to thrive, fatigue, and swelling of the belly. Early diagnosis is important for effective treatment, which typically involves surgery.
Diagnosis
To diagnose Hirschsprung's disease, a doctor will typically perform an exam and ask questions about the child's bowel movements. They may also recommend one or more of the following tests: removing a sample of colon tissue for testing (biopsy), abdominal X-ray using a contrast dye, and measuring control of the muscles around the rectum (anal manometry).
Management and Treatment
Complications
Complications of Hirschsprung's disease can include enterocolitis, a serious intestinal infection that can be life-threatening and requires immediate treatment. Other potential complications in children and newborns may include a swollen belly, vomiting, constipation or gas, diarrhea, and delayed passage of meconium. In older children, possible complications include a swollen belly, chronic constipation, gas, failure to thrive, and fatigue.
Treatment
Treatment for Hirschsprung's disease typically involves surgery to bypass or remove the diseased part of the colon. The most common surgical procedure is called a Soave procedure or a Swenson procedure, which involves removing the affected portion of the colon and then connecting the healthy ends of the intestine. These surgeries help restore normal digestive function. After surgery, children may need to follow a high-fiber diet and take stool softeners to help with bowel movements. In some cases, enemas or bowel irrigation may be necessary to maintain bowel function. It's important to note that Hirschsprung's disease may increase the risk of enterocolitis, a serious intestinal infection that can be life-threatening. Prompt treatment of enterocolitis is crucial to prevent potential complications.