Table of Contents
What Causes Hirschsprung’s Disease?
Under normal physiological conditions, the smooth muscles present in the walls of the bowel exhibit systematic contraction and relaxation. This is governed primarily by nervous regulation, and helps move digested food and feces smoothly along the gut.
This segment is usually at the end of the colon, thus affecting the sigmoid colon (last segment of colon) and rectum (stores stool prior to defecation).
Due to this permanent contraction, the lumen is narrowed, and stool becomes stuck in that particular portion, leading to an obstruction. This may cause bacterial infections to develop and even perforation (a hole) in the bowel.
Who is at Risk?
Hirschsprung's disease is often diagnosed in about 25% of all newborns, in which immediate surgery is needed. It is more common in males as compared to females.
Certain genetic or congenital conditions have also been identified that may make a person more susceptible to Hirschsprung's. The chances of having a child with the disease increases if either of the parents has it, and this chance is even higher if the mother has the disease.
Signs and Symptoms of Hirschsprung's?
The signs and symptoms vary according to the severity of the disease. One of the most common indications in newborns is the inability to pass meconium - dark, tar-like stool that babies pass within 48 hours of birth. 80% of children suffering from Hirschsprung’s exhibit symptoms within the first 6 weeks of birth; those with a minor segment blockage may remain asymptomatic for up to several months or even years.
Some of the most common symptoms that develop gradually include:
- Prominent swelling of the abdomen
Children who develop late symptoms may suffer from the following:
- Watery stools in small quantities
- Loss of appetite and Malnutrition
- Fecal impaction and Constipation
- Retarded growth
How is the Condition Diagnosed?
- Physical Examination: This is determined by the age at which symptoms manifest, as well as their severity.
- Diagnostic Tests: In order to confirm the diagnosis, certain in-depth diagnostic testing may be required. This usually includes the following tests:
This is not a definitive diagnostic test, but it is used to detect the location of the blockage.
This is a very useful radiologic procedure used to examine the colon for any abnormalities. A contrast agent is given into the rectum. This agent coats the inside of organs thus inhibiting them from appearing in an X-ray.
Rectal Biopsy - Diagnostic
A sample of cells retrieved from the rectum is observed under a microscope. If an absence of ganglion cells is detected, along with the presence of non-myelinated nerves, Hirschsprung’s is confirmed.
Suction and Surgical Biopsy
Suction biopsy is done in the case of infants and is painless. However, if the results are inconclusive, a surgical biopsy under general anesthesia must be performed.
This method determines the presence of any normal reflexes that may be present in the movements of the muscles of the rectum and anus. It is only done in older children, never in the newborns.