Hirschsprung’s disease
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Hirschsprung’s disease is a condition that primarily affects children and is characterized by the absence of ganglion cells, which regulate bowel movements in the large intestine. Without these nerve cells to stimulate the muscles in the gut, the contents of the intestine can accumulate, leading to blockages that may cause serious harm.
The muscles in the walls of the large intestine are activated by nerve cells to facilitate the proper movement of stool towards the anus. In the absence of these nerve cells, the muscles cannot be stimulated, causing the bowel to stop functioning properly and leading to a lack of movement.
The two types of Hirschsprung’s disease are:
- Short-segment: The condition is prevalent in 80% of patients, with a higher incidence in males. The most common type of this condition is characterized by the absence of nerve cell development in the final segment of the large intestine.
- Long-segment: Both men and women are affected equally by this type. It happens when the big intestine lacks nerve cells.
Treatment for Hirschsprung’s disease involves surgically bypassing or removing the affected portion of the colon. After undergoing surgery, the majority of children with this condition gain weight, develop normally, and thrive. Hirschsprung’s disease is typically present at birth, but if the illness is moderate, it may not be discovered until later in infancy. It is rare for Hirschsprung’s disease to be diagnosed in adults.
Symptoms
Hirschsprung’s disease can have varying degrees of severity, which affects its signs and symptoms. While these indications typically manifest soon after birth, it is not always the case. One of the most noticeable signs is when a newborn fails to have a bowel movement within the first 48 hours after delivery. While other signs and symptoms may include:
- Abdominal pain, or abdominal swelling
- Brown or greenish vomit
- Constipation or passing of gas
- Diarrhea that could be bloody
- Lack of appetite
- Slow development or growth
- Poor weight gain
- Fatigue
- Fever
It is recommended to seek medical attention if the child experience any signs and symptoms, particularly blood diarrhea, vomit, fever, chills, rectal bleeding, or severe constipation.
Causes
The exact cause of Hirschsprung’s disease is unknown, but it may occasionally be linked to a genetic mutation and can run in families. A child of a parent with Hirschsprung’s disease is more likely to be affected, and siblings are also at a higher risk if one child in the family has the illness. During fetal development, nerve cells usually develop from the top of the small intestine to the large intestine and then to the anus. However, in children with Hirschsprung’s disease, the nerve cells stop developing in the large intestine before reaching the anus. The nerves in the colon are responsible for managing muscle contractions required to pass food through the bowels. In the absence of these contractions, stool remains in the large intestine.
Risk factors
Hirschsprung’s disease risk factors include the following:
- Family: Inheritance plays a role in Hirschsprung’s disease, and if one child in a family has the condition, there is a risk that future biological siblings may also be affected.
- Gender: The number of cases of Hirschsprung’s disease is higher in men.
- Genetic disorders: Hirschsprung’s disease is connected to some genetic disorders like Down syndrome and other birth defects including congenital heart 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.
