Overview

Hirschsprung's disease is a congenital condition in which nerve cells are missing from parts of the large intestine. This absence hinders the normal movement of stool, leading to bowel obstruction and severe constipation in infants and children. Surgical removal of the affected portion of the intestine is the primary treatment for this rare disorder.

This disorder arises from improper formation of the enteric nerves (intestinal nerves) during the developmental stage preceding birth, known as embryonic development.

Though less severe instances may be found later in infancy, this illness is often detected in the first two months of life. Enteric neurons contract the muscles responsible for moving faeces through the gut. In patients with Hirschsprung disease, the material cannot pass through the gut because certain sections lack these nerves, which results in severe constipation or total blockage of the colon.

Forms of Hirschsprung's disease

There are two primary forms of Hirschsprung disease:

- Short-segment: The most prevalent kind. The last section of the large intestine is not where nerve cells develop.
- Long-segment: It happens when the big intestine is devoid of nerve cells.

Causes of Hirschsprung's disease

Early in pregnancy, it starts to manifest in the infant. The cause of Hirschsprung's illness is unknown. It can run in families and occasionally be linked to a genetic mutation. The incomplete formation of nerve cells in the colon leads to Hirschsprung's disease. Food passes through the bowels thanks to muscular contractions controlled by nerves in the colon. Stool remains in the large intestine in the absence of contractions.

Symptoms of Hirschsprung's disease

The degree of Hirschsprung's illness affects the signs and symptoms that an individual experiences. Sometimes, symptoms and indicators only appear much later in life, although they usually do soon after delivery. Hirschsprung disease can cause enterocolitis in up to 40% of children. This illness inflames both the small and large intestines. Inflammation in children might be minimal. Others suffer from severe, sometimes fatal symptoms. Hirschsprung disease symptoms, including fever and explosive diarrhoea, are seen in children with severe enterocolitis.

A newborn's inability to have a bowel movement within 48 hours of delivery is usually the most noticeable indicator.

Additional indications and manifestations in neonates might be:

- Belly swell
- Throwing up, especially when something green or brown comes out of your mouth
- Gas or constipation might cause a newborn to become fussy.
- The diarrheal
- delayed meconium transit, a newborn's first bowel movement

Signs and symptoms in older kids may consist of:

- Belly swelling
- Persistent diarrhoea
- Gas
- Inability to thrive
- Exhaustion

Treatment Options for Hirschsprung's Disease

The disorder known as Hirschsprung's illness is quite challenging. However, if discovered early, it can help your child have a reasonably normal life.

Typically, physicians will do one of two kinds of surgeries:

- Pull-through surgery: This method excises the large intestine section lacking nerve cells. After that, the anus is directly attached to the remainder of the intestine.
- Ostomy surgery: This procedure makes an incision in the body to route the intestines. The ostomy bag, used to retain intestinal waste, is subsequently attached to the exterior of the incision. Until the youngster is prepared for the pull-through treatment, ostomy surgery is typically used as a stopgap.

Following surgery, some kids may experience diarrhoea, constipation, or incontinence (loss of control over urine or bowel movements).

Enterocolitis might strike a small number. Fever, vomiting, enlarged abdomen, and rectal bleeding are among the symptoms. In such an event, the child must be immediately taken to the hospital. Nonetheless, these ailments ought to improve with appropriate care, including a healthy diet and lots of water, and most kids may resume regular bowel movements within a year of starting therapy. Some kids will occasionally experience gastrointestinal problems well into adulthood. As a congenital condition, Hirschsprung's disease should be watched carefully throughout life.

When to Consult a Doctor

You can also get in touch with the expert Gastroenterology doctors at Narayana Healthcare based in your city to get immediate attention and medical support during injuries, health disorders or any other health concern.

Conclusion

Finding out that a child has a severe illness like Hirschsprung disease is unsettling. Thankfully, digestive problems are frequently resolved with surgery. Following surgery, your youngster must have regular bowel motions and live an entire life. You should see changes in your child, such as development and weight increase since they feel better and are no longer constipated. Watch for indications of problems, such as an intestinal obstruction, in the lead-up to surgery. Call your healthcare practitioner immediately if you are worried about your child's health.

FAQs

Q. What is the best way to avoid Hirschsprung disease? A. Hirschsprung disease cannot be prevented. Genetic counsellors may be an excellent resource to consult before beginning a family if you have a condition or family history.

Q. What is the prevalence of Hirschsprung disease? A. Hirschsprung disease is a congenital condition or birth disorder. It exists from the moment of birth. Every year, the illness affects about 5,000 newborns. Males are three to four times more likely than females to be affected by the disease.

Q. When is the best time to call the doctor? A. If a kid encounters any of the following, you should contact your healthcare provider:

- Puke or bloody diarrhoea.
- Colds and fever.
- Bleeding in the rectal area.
- Acute constipation.

References

- https://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/symptoms-causes/syc-20351556
- https://medlineplus.gov/genetics/condition/hirschsprung-disease/