Hirschsprung's Disease
Early detection and treatment may be crucial in patients with Hirschsprung's disease.

Hirschsprung's disease is treated surgically. It is routinely performed within the first few days or months of life, shortly after the condition is diagnosed.

Hirschsprung's disease, also called congenital aganglionic megacolon disease, is a birth defect in which ganglionic cells fail to form in the large intestine. These nerve cells regulate the muscles that ordinarily drive food and waste through the colon. It can be fatal in rare situations. 

Children with Hirschsprung’s disease always require surgery as the chances of long-term survival without treatment are poor. The purpose of the surgical procedure to treat Hirschsprung's disease is to remove the segment of the colon that lacks nerve bundles and then join the healthy portions of the colon together. 

Every child's treatment plan is tailored to their specific requirements and the severity of their disease, employing cutting-edge technology, and the most recent research. Often, this may be done in a single step using a minimally invasive (laparoscopic) surgery shortly after the problem is diagnosed, or it may be done in different steps or stages.

What are the treatment options for Hirschsprung's disease?

Treatment will be determined by the child's symptoms, age, and overall health. It will also depend on how severe the disease is.

Initial treatment

To relieve the symptoms:

  • Milk feedings may be discontinued.
  • A tube will be inserted through the nose into the stomach to remove any fluid or air accumulated there.
  • Intravenous fluids and antibiotics may be administered.
  • Rectal washouts or irrigations can help decompress the bowel and relieve pain. Washouts are often required once or twice per day and take 20 to 30 minutes per session.
  • Rectal irrigations prevent stool accumulation. They are occasionally required before and/or after surgery.

Surgical treatment

This is sometimes done in a single procedure. However, it is frequently done in two stages. An ostomy is done initially, and the main surgical treatment is performed later in the child's first year of life.

Ostomy

  • A child with Hirschsprung’s disease may require ostomy surgery initially. This can assist the child in healing before the main operation. 
  • The diseased portion of the large intestine is removed during ostomy surgery. The end of the healthy intestine is transferred to the stoma (which is an abdominal opening).
  • The stool is routed through the stoma and into a bag worn outside the body. The bag must be emptied multiple times throughout the day.
  • Infants will feel better after an ostomy because they can pass gas and stool more easily.
  • Two types of ostomy include:
    1. Ileostomy: The whole large intestine is removed, and the small intestine is connected to the stoma.
    2. Colostomy: Involves the removal of a portion of the colon.

Pull-through surgery

  • The dysfunctional colonic portion has to be surgically removed. The rectum and abnormal portions of the colon are often removed. 
  • The healthy portion of the colon is then pulled down and connected to the anus.
  • The doctor closes the stoma and attaches the normal section of the colon to the rectum.

Pull-through surgery can be done in various ways. The primary methods are known as the Swenson, Soave, and Duhamel techniques. They differ in how much of the colon is removed and how the residual bowel is connected to the anus. There is no proof that one approach is superior to another.

There are different ways for surgeons to reach the abnormal colon, which include:

  • Laparoscopic surgery: Through small "keyhole" cuts in the abdomen
  • Open surgery: Through a single larger cut
  • Transanal pull-through: Through the anus 

The surgeon will consult with you about their recommendations. You and the surgeon may decide the best approach for your child. Children may need monthly checkups, and some require treatment following surgery for digestive or bowel control issues.

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What are the common signs and symptoms of Hirschsprung's disease?

If a newborn does not defecate during the first 24 hours after delivery, doctors may suspect and try to rule out Hirschsprung’s disease. Hirschsprung’s disease has previously been recognized as rare or absent in premature babies. More recent reports indicate an increasing prevalence of premature babies.

Common signs and symptoms that may help diagnose Hirschsprung's disease include:

  • Not having a bowel movement within the first 24 hours of life in newborns
  • Difficulty with bowel movements
  • Worsening constipation
  • Accumulation of gas
  • Vomit that is green or brown
  • A bloated or swollen stomach
  • Loss of appetite
  • Fussiness
  • Refusing to feed
  • Jaundice
  • Watery diarrhea
  • Stool buildup in the intestine, causing a blockage

If only a small section of a child's large intestine is obstructed, the following symptoms may occur:

  • Ribbon-like thin stools
  • Blood in stools, leading to anemia
  • Bloated or swollen stomach
  • Not gaining weight
  • Failure to thrive
  • Stool not passing properly
  • Slow or delayed growth
  • Loss of energy
  • Malnutrition

Infants with minor symptoms may not be diagnosed until they are adolescents or adults, in rare cases. Hirschsprung enterocolitis can occur if Hirschsprung’s disease is not addressed or treated timely. This can be life-threatening, with symptoms such as:

Hirschsprung’s disease symptoms vary in severity and typically emerge shortly after birth, but they may not show until later in life in some children. The most prominent indicator of Hirschsprung’s disease is a newborn's inability to make their first bowel movement within two days after birth. These babies also often do not react to constipation medications intended to treat digestive difficulties reported by some newborns without Hirschsprung’s disease.

What are the potential causes of and risk factors for Hirschsprung's disease?

The direct cause of Hirschsprung’s disease is unknown, and doctors aren't sure why it occurs. Hirschsprung's disease has a complex etiology and may run in families or appear suddenly. 

Potential causes and risk factors include:

  • Birth defect
    • Hirschsprung’s disease develops before birth. Nerve cells begin at the beginning of the bowel and grow toward the end of early fetal development
    • These cells stop growing in Hirschsprung’s disease and do not reach the end of a child's bowel, which contains the colon and rectum. Because of this, the bowel cannot contract properly, causing stool passage to be delayed. 
    • Doctors don't know why the required ganglion cells do not migrate through the entire digestive tract.
  • Family history
    • A child is more likely to develop Hirschsprung’s disease if the disorder runs in the family.
    • If a family has a child with Hirschsprung's disease, there is a 3 to 12 percent risk that their next child too will have the disease.
    • A couple also has a higher risk of having a child with Hirschsprung's disease if one of the parents has the disease. If the mother is the parent with Hirschsprung's disease, the risk is more significant.
  • Genetic syndrome
    • The disorder is also linked to genetic syndromes, such as Down syndrome and congenital heart disease.
    • Children with Down syndrome have a 50 times higher risk of Hirschsprung's disease. Hirschsprung's disease is strongly associated with chromosomal abnormalities. with 10 to15 percent of cases associated with trisomy 21 (Down syndrome).
  • Gender
    • Hirschsprung’s disease occurs in 1 out of every 5,000 live births. It is more common in boys than in girls. The male-to-female ratio is approximately 4:1

Various universities have research in progress to understand the genetic and nongenetic factors that predispose children to Hirschsprung’s disease.

What is the outlook of children with Hirschsprung's disease?

Hirschsprung's disease can be surgically corrected. The key to diagnosis is a high index of suspicion. Early detection and treatment may be crucial in patients with Hirschsprung's disease. When children are appropriately treated, their growth, development, and their intellectual function are typically within normal limits

One probable reason for poor postoperative prognosis is inadequate resection of the affected intestine and pull-through only to the transition zone. Enterocolitis is common after surgical resection, with fatality rates ranging from 6 to 30 percent.

Constipation was noted in up to one-third of surgically treated children with Hirschsprung's disease. Constipation may be responsive to long-term follow-up and conservative measures, such as chronic stool softeners and regular toileting habits. Anal myectomy or myotomy may be necessary for 20 to 30 percent of patients to relieve constipation.

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Medically Reviewed on 11/18/2022
References
Image Source: iStock image

Hirschsprung disease https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease

What Is Hirschsprung's Disease? https://www.webmd.com/children/what-is-hirschsprungs-disease

Hirschsprung’s Disease: Diagnosis and Management https://www.aafp.org/pubs/afp/issues/2006/1015/p1319.html

Hirschsprung’s disease https://rarediseases.org/rare-diseases/hirschsprungs-disease/