Hirschsprung’s disease

Diagnosis

The following procedure will assist the healthcare provider properly diagnose the condition.

• Physical examination: The child’s healthcare professional will conduct a physical examination and inquire about the child’s bowel movements to help diagnose Hirschsprung’s disease. Further tests may be recommended to confirm or rule out the condition.
• Biopsy: The most reliable method for diagnosing Hirschsprung’s disease is by taking a biopsy sample using a suction instrument, which is then examined under a microscope to determine if any nerve cells are missing. This procedure is not usually painful and may not require anesthesia.
• X-ray: A special tube is inserted into the rectum to inject barium or another contrast dye into the bowel. The barium coats the lining of the bowel, creating a clear image of the colon and rectum. The X-ray reveals a distinct contrast between the narrow section of the bowel lacking nerves and the normal but often swollen section of the bowel located behind it.
• Anorectal manometry: An anorectal manometry is a test that measures how effectively the rectum and anus eliminate feces. This test employs external pressure sensors and an internal balloon device, and sedation may be given to the child undergoing the test.
• Barium enema: During your child’s sedated state, a healthcare provider will insert a thin tube called a catheter into their anus. This catheter will then be used to fill their intestine with barium, which is a safe and white liquid. While the barium travels through their intestine, a technician will take X-ray images to show any bowel obstructions or narrowings in the intestines. This procedure is known as a barium enema X-ray, which is a type of exam that focuses on the lower gastrointestinal (GI) tract.

Treatment

To treat Hirschsprung’s disease, surgery is often required to bypass or remove the segment of the colon that is devoid of nerve cells. There are two main surgical procedures that can be employed to achieve this: pull-through surgery and ostomy surgery.

• Pull-through surgery: A method that involves removing the damaged lining of a segment of the colon, and then pulling the healthy portion from inside and connecting it to the anus. This procedure is typically performed with minimally invasive techniques, using laparoscopy through the anus.
• Ostomy surgery: When a child is very sick and needs surgery to remove an abnormal portion of their colon, it may be done in two steps. In the first step, the surgeon removes the abnormal part of the colon and attaches the healthy part to an opening they create in the child’s abdomen. This opening allows stool to leave the body through a bag attached to the end of the intestine that protrudes through the hole in the abdomen. This helps the lower part of the colon to heal.

After the colon has had time to heal, the second step of the surgery is done. In this step, the stoma is closed, and the healthy part of the intestine is connected to the rectum or anus. This completes the surgery and allows the child to resume normal bowel function.