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Hirschsprung’s Disease- Types, Causes, Symptoms, and Treatment

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Hirschsprung’s Disease- Types, Causes, Symptoms, and Treatment

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Hirschsprung's disease is the absence of nerve cells in the large intestine affecting the bowel. Its symptoms, causes, complications, and treatment are listed.

Medically reviewed by

Dr. Ajeet Kumar

Published At July 11, 2022
Reviewed AtJune 29, 2023

Introduction:

Hirschsprung's disease is caused due to failure in the migration of ganglion cells cephalocaudally through the neural crest during gestation- between weeks four to twelve.

Due to the lack of this phenomenon, ganglion cells are absent in some or all parts of the colon.

Usually, the aganglionic (without ganglion) portion begins at the anal region and extends proximally upwards. Early diagnosis and investigation are important to prevent complications such as enterocolitis colonic rupture. Proper treatment at the right time can prevent patients from having long-term complications and adverse effects.

What Is a Large Intestine?

It is part of the digestive system formed by the colon and rectum that helps to remove waste from the body. Water absorption from the waste takes place in the large intestine as well.

What Can Cause Hirschsprung’s Disease?

It affects almost one in every 5000 newborn children. The cause of the disease can depend on different factors; it can be familial (hereditary) or spontaneous. The most affected population is males rather than females.

Multiple genomes are associated with Hirschsprung's disease, but it is observed that most cases are not considered hereditary. The most common chromosomal condition associated with the disease is Down syndrome (trisomy of chromosome 21). Hirschsprung's disease can also be linked to other abnormalities such as neurologic, cardiovascular, gastrointestinal, urologic, and chromosomal deformities. Approximately 10 % of the patients account for Hirschsprung's disease. Other conditions associated with Hirschsprung's disease are hydrocephalus, diverticulum (pouches) of the bladder, imperforate anus (improperly developed anus) and renal agenesis.

What Are the Types of Hirschsprung’s Disease?

Depending on the area of nerve cell loss, it can be of two types:

  • Short- Segment: It is the most common type affecting almost 80 % of children. In this type, nerve cells are not formed in the last part of the large intestine.

  • Long- Segment: In this type, the nerve cells are seen missing from the entire large intestine of the body.

What Are the Symptoms of Hirschsprung’s Disease?

The symptoms of the disease are from intestinal obstruction in neonatal life to chronic progressive constipation in grown-up children. In the majority of cases, patients have difficulty in bowel movements during the first few months of life, followed by poor feeding and abdominal distension.

Symptoms in Infants Are:

  • Bilious Vomiting: Green or bright yellow-colored vomitus due to large amounts of bile in the stomach.

  • Infants affected with Hirschsprung's disease fail to pass meconium (a newborn's first feces) in the first 24 hours of life.

  • Irregular, challenging, and explosive bowel movements.

  • Enterocolitis-Associated Diarrhea: Watery diarrhea with abdominal distension, pain, and fever.

  • Jaundice: A condition in which, due to high levels of bilirubin, there is the yellowish coloration of the skin, whites of the eyes (sclera), and mucous membrane.

  • Poor Feeding: Less intake of food and mother's milk.

  • Progressive Abdominal Distension: Expansion of abdomen due to accumulation of air (gas) or fluid.

  • Stiff anal sphincter with an empty rectum.

Symptoms in Older or Younger Children:

  • Chronic progressive constipation had its onset in infant life.

  • Failure to Thrive: Compromised growth and failure to gain weight.

  • Absence of soiling or overflow incontinence.

  • Malnutrition: Due to irregular and different bowel movements, proper absorption of nutrition is compromised; thus causing malnutrition.

  • Progressive abdominal distension.

How to Diagnose Hirschsprung’s Disease?

The disease should be reported as soon as possible to prevent further complications in the body. Following investigation, measures should be taken to diagnose the condition.

  • Barium Enema: The dye is made up of barium, which helps coat and highlights the inside of the body's organs. The child is placed on a table, and dye is inserted via a tube from the anus into the intestines. X-rays are taken to evaluate the intestines.

  • Abdominal X-Ray: It is the standard X-ray of the abdomen used by the doctor to look for any intestinal blockages.

  • A small sample of tissue from the child's rectum is sent for a biopsy test to look for signs of Hirschsprung's disease.

  • Anorectal Manometry: This test inflates a small balloon inside the rectum of the child to observe whether the muscles of the area respond properly or not. This test is performed only in older children and not infants.

What Is the Treatment for Hirschsprung’s Disease?

It is a very serious condition, but if diagnosed and treated at the right time, the child can live a relatively normal life.

There are usually two types of surgery, one of which is performed:

  • Pull-Through Procedure: In this surgery, the part of the large intestine with missing nerve cells is cut out, and the rest of the intestine is connected directly to the anus.

  • Ostomy Surgery: The doctor routes the intestine to a new opening made in the body in this surgery. An ostomy bag is attached to the outside of this opening which holds the waste from the intestine. This surgery is performed temporarily until the child is not prepared for a pull-through procedure.

What Are the Complications After Surgery?

  • After surgical treatment of the disease, some children may face issues like constipation, diarrhea, or lack of control over bowel movements or urination (incontinence).

  • Few children may get infected with enterocolitis, including signs like rectal bleeding, fever, vomiting, and a swollen abdomen. If the condition is severe, it should be immediately reported.

Maintaining a proper diet and consuming plenty of water can gradually help to subside these complications within a year of surgery.

What Happens if Hirschsprung’s Disease Is Left Untreated?

Since the disease affects one of the body's essential functions, the digestive system, it can be hazardous if left untreated.

The life-threatening problems which can occur are:

  • Significant Bowel Obstruction: Food is stopped from passing through the intestine. Due to this obstruction, the blood flow is cut off, and part of the intestine gradually dies. As this pressure builds up, the bacteria leak into the blood from the intestine and can cause sepsis.

  • Toxic Megacolon: A rare, life-threatening condition in which the colon is expanded and swollen. If the gas and poop cannot move through the intestine, they can rupture.

Conclusion:

Hirschsprung's disease is a severe condition in children which should not be ignored. The lack of nerve cells in the large intestine cannot be corrected, but surgical measures help to remove the affected part and create alternative routes for digestion. If the disease is left untreated, it can cause serious problems in the older age of the children, which could be lethal.

Frequently Asked Questions

1.

What Is Hirschsprung Disease?

Hirschsprung disease is a condition in which nerves fail to develop in some or all parts of the colon. This creates a problem with the passing of stool as the colon lacks nerve tissue. This condition is congenital as the nerve cells are missing from the muscles of the colon. This can make the movement of waste content in the gut and cause blockage in the bowel.

2.

Is Hirschsprung’s Disease Curable?

Hirschsprung's disease does not get cured on its own. Therefore in the majority of cases, Hirschsprung's disease is cured with surgery. With the surgery, the affected part of the colon is removed or the stool is bypassed to get directly removed from the body. After the surgery, the children have a normal life without any complications.

3.

How Is Hirschsprung’s Disease Treated?

In the majority of cases, Hirschsprung’s disease is treated with the help of surgery. There are two types of surgeries involved to treat this condition. Surgery is done to bypass or remove the affected part of the colon for easy removal of waste products from the body. The surgeries include -
- Pull-Through Surgery - In this procedure, the lining of the diseased part of the colon is removed and the normal part of the colon is pulled and attached to the anus.
- Ostomy Surgery - In this the abnormal part of the colon is removed and the healthy part is attached to an opening created by the surgeon in the abdomen for the excretion of stool. After the lower part of the colon has healed this hole is closed and the healthy part of the colon is attached to the anus.

4.

What Is the Diagnosis of Hirschsprung’s Disease?

For the diagnosis of Hirschsprung's disease, doctors usually prescribe rectal biopsies. During this procedure, a small amount of tissue sample is taken from the rectum to confirm the diagnosis. Along with that some additional tests like abdominal X-ray using a contrast dye and anal manometry (checking the control of muscles around the rectum) can also be done.

5.

What Age Is Hirschsprung’s Disease Diagnosed?

Hirschsprung's disease develops before birth and doctors cannot diagnose the disease until the infant is born. More than 60 percent of the cases are diagnosed by six months of age. This disease can also be diagnosed later in life or even in adult patients. These are usually signs in mild cases which get diagnosed late on with the appearance of certain symptoms.

6.

Is Hirschsprung’s Disease a Lifelong Condition?

Hirschsprung’s disease is a congenital condition which means it is present from birth. This disease cannot be cured on its own and has to be monitored as it can be fatal to children without any treatment. However, in some cases, the disease is not diagnosed as the child grows and may be diagnosed in adulthood. This can only be treated with the surgery and the child may lead a healthy life after having the surgery.

7.

What Is the Outcome of Hirschsprung’s Disease Surgery?

 
Hirschsprung’s disease can only be treated with the help of surgery. The success rate of surgery is around 80 percent and there are very few cases where the patient has any complications after this surgery. Children often feel better after the surgery and if they experience any problems further additional tests may be advised.

8.

Is Hirschsprung’s Disease Hereditary?

Hirschsprung’s disease is a congenital condition and has a strong genetic basis. Various genes may be associated with this condition and it also sometimes runs in families. If a person has a child with Hirschsprung's disease there is a high chance that the next child may have this condition. This condition may also be associated with other conditions such as Down’s syndrome.

9.

What Diet Should Be Followed for Hirschsprung’s Disease?

Hirschsprung’s disease's primary symptom is constipation and to prevent this doctor may advise the following things to include in the diet which include -
- High-fiber foods.
- Include fluids and diet
- Eat more fruits and vegetables.
- Encourage physical activity.
- Laxatives can be used to treat this condition.

10.

Is Hirschsprung Disease Common in Males or Females?

Hirschsprung disease is most commonly seen in males. In males, it is found to be three to four times more than in females. It has been found to be approximately one in 5000 live births. It is found most commonly after birth but may also be present in older children and adults.

11.

Is Hirschsprung Disease Fatal?

Hirschsprung disease can be fatal without any treatment. However, the mortality rate ranges between 1 to 10 percent of cases. Therefore there are very rare chances this condition may turn out to be fatal and with early diagnosis and treatment, the child may lead a healthy life without any complications.
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Dr. Ajeet Kumar
Dr. Ajeet Kumar

Medical Gastroenterology

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