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HIRSCHSPRUNG’S DISEASE (HSCR)

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HIRSCHSPRUNG’S DISEASE (HSCR)

Hirschsprung’s disease is a congenital defect that is characterized by the absence of particular nerve cells in a segment of the bowel in a baby.

  • The absence of these cells causes the muscles in the bowel to lose their ability to move stool through the intestine
  • A newborn who is suffering from this condition usually can’t have a bowel movement in the days after birth
  • The condition is divided into two main parts, short-segment and long-segment, depending on how much of the bowel is affected
  • The condition majorly affects the large intestine (colon), but rarely, the small intestine may be affected
  • Hirschsprung’s disease can sometimes lead to a condition called enterocolitis, which is the inflammation of the small intestine and the colon. This is often referred to as Hirschsprung-associated enterocolitis, and it is the most frequent complication of HSCR.
  • Enterocolitis can be life-threatening and requires immediate treatment. Severe or untreated enterocolitis can lead to megacolon.

CAUSES

The disorder may occur in isolation or in association with other abnormalities.

HSCR that occur in isolation has been associated with mutations in several different genes. Inheritance of these genes can be dominant or recessive depending on the gene involved. The abnormal genes associated with the disorder can have different effects on members of the same family. A parent who has HSCR has an increased chance of having a child with the disorder. If otherwise normal parents have a child with the condition, the next child has a 4% risk of being affected. The major genes associated with the disorder are the RET proto-oncogene, a gene that codes for proteins that aid neural crest cells in their movement through the intestines in the developing fetus, and EDNRB gene that codes for proteins that connect the ganglions to the digestive tract.

HSCR that occurs in association with other abnormalities is caused by a chromosome abnormality or genetic syndrome. These may include:

  • Bardet-Biedel syndrome
  • Cartilage-hair hypoplasia
  • Congenital central hypoventilation syndrome
  • Down syndrome, people with Down syndrome are at a greater risk
  • Mowat-Wilson syndrome
  • Smith-Lemli-Opitz syndrome
  • Waardenburg syndrome

SYMPTOMS

The most obvious symptom is a newborn’s failure to have a bowel movement within 48 hours of delivery.

Normally, 90% of babies pass their first stool (meconium) within 24 hours, and 99% within 48 hours.

Other symptoms include:

  • Green or brown vomit
  • Swollen belly
  • Swelling of the abdomen
  • Excessive gas
  • Bloody diarrhea
  • Explosive stools after a doctor insert a finger into the rectum

Some cases are diagnosed later, into childhood. Symptoms may include:

  • Fecal retention
  • Chronic constipation
  • Abdominal distention
  • Growth issue
  • Fatigue

DIAGNOSIS AND TREATMENT

To make a diagnosis, the doctor may adopt these diagnostic techniques:

  • Anorectal manometry for older children. In this procedure, the doctor inflates a small balloon inside the rectum to see if the anal muscle relaxes. If the muscle does not respond, the child may have HSCR
  • Barium enema where the doctor injects a dye via a tube from the anus into the intestine of the child. The dye helps to highlight the inside of the body’s organ and see problem areas on X-rays
  • A biopsy where the doctor removes a sample tissue from the colon to examine under a microscope
  • An abdominal X-ray
TREATMENT

Surgery is thought to be the most effective treatment. This is done in one step or two depending on how severe the condition is. They include:

Pull-through surgery where the doctor cuts out the part of the large intestine with the missing nerve cells. Then the rest of the intestine is attached directly to the anus

Ostomy surgery, it is done in 2 steps.

First, the doctor removes the unhealthy section of the large intestine, creates a small opening (stoma) in the child’s abdomen, and then attaches the top, healthy portion of the colon to the opening. Through this opening, the content of the bowel is eliminated into a special bag.

After a time, the second stage, a pull-through surgery is carried out to close the stoma and connect the healthy portion of the intestine to the anus.

Within a year of proper treatment, 95% of people get cured of the disorder.