Knowing Hirschsprung Disease

Hirschsprung's disease, also known as "congenital megacolon," is characterized by the absence of nerve ganglion cells in the intestinal wall. The length of the intestine that can be affected by Hirschsprung's disease varies. The loss of nerve ganglion cells from the intestinal wall can cause obstruction in the intestine and make the baby or child bloated.

Incidence

• 1:5000 live births
• Female = male
• The affected intestine, from the rectum to the large intestine, can determine the severity of Hirschsprung's disease.

 

Do patients with Hirschsprung's disease have other genetic disorders?

As many as 15–25% of babies and children born with Hirschsprung's disease have other genetic disorders.

 

What are the symptoms of Hirschsprung's disease, and how do I make a diagnosis?

Symptom

Symptoms are usually seen within the first 24 hours after birth, with slow meconium expenditure followed by flatulence, difficulty defecating (BAB), and green vomit. When a digital rectal examination is performed, there will usually be a discharge of gas, meconium, or feces.

 

Diagnosis

How to make a diagnosis by doing:

• A plain abdominal radiograph showing a dilated large intestine and narrowed rectum
• The use of a contrast enema can reveal the transition zone.
• Rectal biopsy for pathological examination showed the absence of nerve ganglion cells and nerve dilatation (> 40 microns).

 

 

Complications that can arise from Hirschsprung's disease

The most common disease is Hirschsprung-associated enterocolitis (HAEC). HAEC can usually make stools smell more sour with stools that are runny and gray in color.

 

What is the treatment for HAEC patients?

• Rectal irrigation

Rectal irrigation serves to reduce dilation of the intestine when Hirschsprung's disease occurs or in infants or children who experience HAEC. Rectal irrigation is done by inserting a fine silicone catheter into the anus or rectum. Then a warm intravenous fluid is given, and it is hoped that it can bring out the stool or gas that cannot come out due to the narrowing of the intestine, which does not have nerve ganglion cells. This irrigation can be done independently by the family by observing the steps and rules that have been taught by health workers or doctors. Rectal irrigation is done every day, once per day, and is done until the liquid that comes out is clear.

In patients with HAEC, rectal irrigation must first be carried out in a health center or hospital and supervised by a health worker or doctor.

• Antibiotics
• Overcoming dehydration

 

Primary therapy for Hirschsprung's disease

The main therapy for Hirschsprung's disease is to surgically remove the intestine that does not have nerve ganglion cells (pull-through). If the baby or child is in a condition that is not optimal for a pull-through operation or if the intestine is too wide to do a pull-through, then the main option is diversion of excretion with a colostomy (placement of the intestine in the stomach). If the condition of the baby or child is optimal and the size of the intestine is good for pull-through, then surgery can be done.

 

Post-pull-through complications

In infants and children with Hirschsprung's disease before or after major surgery, HAEC may occur. So parents and caregivers of babies and children must continue to pay attention to the condition of the baby or child. Complications can occur sooner or later.

 

If you have complaints about Hirschsprung's disease or want to consult about Hirschsprung's symptoms and information about Hirschsprung, you can go to a pediatric surgeon for consultation and further information about Hirschsprung.