Hirschsprung’s disease

Overview

Hirschsprung’s disease, also known as congenital megacolon, is a rare birth defect affecting the large intestine (colon). It results from missing nerve cells in the intestinal muscles, leading to impaired bowel movements. The condition is present at birth and can cause significant complications if left untreated.

Types of Hirschsprung’s disease

1. Short-Segment Hirschsprung’s Disease: Nerve cells are absent only in the last segment of the large intestine (colon).
2. Long-Segment Hirschsprung’s Disease: Nerve cells are missing in a more extensive portion of the colon, often extending to the splenic flexure or transverse colon.

Causes of Hirschsprung’s disease

The exact cause of Hirschsprung’s disease remains unclear, but several factors contribute:

• Genetic Mutations: Specific genes, such as the RET proto-oncogene, are associated with the condition.
• Family History: Individuals with affected family members have a higher risk.
• Associated Syndromes: Hirschsprung’s disease may occur alongside conditions like Down syndrome or Waardenburg syndrome.

Risk Factors of Hirschsprung’s disease

Certain factors increase the likelihood of developing Hirschsprung’s disease:

• Sibling History: Having a sibling with the condition raises the risk.
• Gender: Males are more commonly affected.
• Other Inherited Conditions: Associations with congenital heart disease and other abnormalities.

Symptoms of Hirschsprung’s disease

Preventions of Hirschsprung’s disease

While prevention isn’t always possible, early diagnosis and prompt treatment are crucial. Regular check-ups and awareness of family history can help.

Diagnosis of Hirschsprung’s disease

• Physical Exam: Assessing symptoms and abdominal swelling.
• Barium Enema: Visualizing narrow areas and blockages in the colon.
• Biopsy: Examining rectal cells under a microscope.
• Manometry: Assessing muscle relaxation in older children.

Treatment for Hirschsprung’s disease

Surgical options include:

• Pull-Through Procedure: Removing the affected colon segment and connecting the healthy part to the anus.
• Bowel Resection with Colostomy: Creating an external pouch to collect feces.
• Serial Rectal Irrigation: Relieving bowel pressure

When to seek medical attention ?

If you or your child experience any of the following symptoms, seek medical attention promptly:

1. Newborns:

   • Failure to Pass Meconium: If a newborn doesn’t pass meconium (the first stool) within 48 hours after birth.
   • Vomiting: Persistent vomiting, especially if it contains green or brown material.
   • Abdominal Swelling: Noticeable abdominal distension.

2. Older Children:

   • Chronic Constipation: Difficulty passing stools consistently.
   • Gas and Bloating: Frequent gas and abdominal discomfort.
   • Fatigue and Poor Growth: Children failing to thrive due to inadequate nutrition.