Hirschsprung Disease: Meaning, Causes, Symptoms, Treatment

Written by Medicover Team and Medically Reviewed by Dr Vamshee Reddy , Pediatricians

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Hirschsprung Disease is a condition that affects the large intestine (colon) and causes problems with passing stool. It happens when some nerve cells in the colon do not develop properly before birth.

Without these nerve cells, parts of the colon cannot move stool normally, which leads to constipation, swelling or bowel obstruction. This condition is usually present from birth and is more common in newborns and young children, though mild cases may be detected later in childhood.

Types of Hirschsprung Disease

Hirschsprung Disease can vary depending on how much of the colon is affected:

• Short-segment Hirschsprung Disease: Only the end part of the colon near the rectum is missing nerve cells. This is the most common type.
• Long-segment Hirschsprung Disease: A larger portion of the colon is affected. The longer the segment, the more severe the symptoms can be.
• Total colonic aganglionosis: The entire colon lacks nerve cells. This is very rare and usually causes severe problems soon after birth.

Each type affects bowel movements differently and requires tailored medical care.

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Hirschsprung Disease Symptoms

The symptoms of Hirschsprung Disease depend on the severity and the length of the colon affected.

Hirschsprung Disease Symptoms in Newborns and Infants

• Difficulty passing the first stool (meconium) within 48 hours of birth
• Swollen belly
• Vomiting, sometimes with green or brown fluid
• Constipation or diarrhea

Hirschsprung Disease Symptoms in Older Children

• Chronic constipation
• Abdominal swelling or bloating
• Poor appetite and slow growth
• Explosive stools or diarrhea after using laxatives

Hirschsprung Disease Symptoms in Adults

Some adults may have mild Hirschsprung Disease that was not found in childhood. Symptoms include:

• Long-term constipation that doesn't get better with diet or medicine
• Swollen or bloated belly
• Trouble passing stool completely
• Stomach pain or cramps
• Sometimes bowel blockage in serious cases

Early diagnosis is important to prevent serious complications like bowel obstruction or infections.

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Hirschsprung Disease Causes

Hirschsprung Disease develops mainly due to problems in gene development and nerve cell formation in the colon.

Main Hirschsprung Disease causes include:

• Genetic mutations: Changes in certain genes, like the RET gene, can prevent nerve cells from forming properly in the colon.
• Inherited factors: Children with a family history of Hirschsprung Disease are more likely to develop it.
• Developmental issues during pregnancy: The colon may not form correctly as the baby grows, affecting nerve cell placement.
• Associated conditions: Sometimes, Hirschsprung Disease occurs alongside other congenital disorders like Down syndrome.

These factors affect how the colon muscles work, leading to constipation and bowel problems.

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Risk Factors of Hirschsprung Disease

Certain factors can increase the likelihood of a child developing Hirschsprung Disease:

• Family history: Having a sibling or parent with the condition increases risk.
• Genetic conditions: Children with Down syndrome or other congenital disorders are more likely to have Hirschsprung Disease.
• Gender: Boys are more commonly affected than girls.
• Premature birth: Babies born early may have a slightly higher chance of developing the condition.

Understanding these risk factors helps doctors identify and monitor children who may need early evaluation.

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Hirschsprung Disease Complications

If not treated, Hirschsprung Disease can lead to serious problems in both children and adults:

In children:

• Bowel obstruction: Stool builds up, causing severe constipation and swelling.
• Enterocolitis: Infection and inflammation of the intestines, which can be life-threatening.
• Poor growth: Difficulty absorbing nutrients can slow weight gain and development.
• Severe abdominal pain: Due to constipation or blockage.

In adults (rare cases):

• Chronic constipation that affects daily life
• Abdominal swelling and pain
• Recurrent bowel obstruction
• Risk of infection in the intestines if untreated

Early diagnosis and proper treatment can prevent most of these complications.

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When to See a Doctor for Hirschsprung Disease?

See a doctor early if you notice:

• Newborns: Hasn't passed first stool within 2 days of birth
• Children: Constipation that doesn't improve, swollen belly, poor appetite or slow growth
• Adults (rare): Long-term constipation, bloated belly or abdominal pain
• Serious signs: Fever, vomiting, or severe belly pain

Early check-ups help prevent serious problems like bowel blockage or infection.

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Hirschsprung Disease Diagnosis

Doctors use several tests to confirm Hirschsprung Disease and understand how much of the colon is affected:

• Physical examination: The doctor checks for a swollen belly, hard stool, or other signs of blockage.
• Imaging tests: X-rays or contrast enemas show the size and shape of the colon and where stool is stuck.
• Rectal biopsy: A small tissue sample from the colon is taken to check for missing nerve cells (ganglion cells). This is the most definitive test.
• Anorectal manometry: Measures how the muscles in the rectum respond to pressure, helping detect nerve problems.
• Blood tests: Used to check overall health and detect infections or complications.

Accurate diagnosis helps doctors plan the best treatment and prevent serious complications.

Treatment and Management of Hirschsprung Disease

Treatment focuses on removing or bypassing the part of the colon without nerve cells to restore normal bowel movements. Early intervention is important to prevent complications.

Surgery (Pull-through procedure)

• The primary treatment for most cases.
• The surgeon removes the affected portion of the colon that lacks nerve cells.
• The remaining healthy part of the colon is then connected to the anus so that stool can pass normally.
• Surgery is usually done in infancy or early childhood, depending on the child's health.
• Modern techniques often allow minimally invasive surgery, which reduces recovery time and scarring.

Temporary Colostomy (in severe cases)

• In some children with severe swelling, infection, or very long segments affected, a temporary colostomy may be needed.
• A small opening (stoma) is made in the abdomen, and stool passes into a bag outside the body.
• This helps relieve pressure and infection until the child is ready for the pull-through surgery.

Medications and Supportive Care

• Laxatives or stool softeners may be used temporarily before surgery to manage constipation.
• Ensuring good hydration and a balanced diet supports bowel health.
• Gentle bowel management, including abdominal massages, may help children pass stool more comfortably.

Post-Surgery Follow-up

• Regular medical check-ups monitor bowel function, growth, and development.
• Some children may experience occasional constipation or mild incontinence, which can be managed with diet, medication, or therapy.
• Education for parents on bowel care at home is crucial for long-term success.

With proper surgery, supportive care, and follow-up, most children recover well, achieve normal bowel function, and grow healthily.

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Conclusion

Hirschsprung Disease affects the colon and can lead to chronic constipation, abdominal swelling, and difficulty passing stool. If not treated early, it can cause serious problems like bowel obstruction, infections and poor growth.

With early diagnosis, appropriate surgery, and proper follow-up care, most children and even adults can achieve normal bowel function. Supportive care, including a healthy diet, hydration and guidance on bowel management, helps children grow and develop well. Timely treatment ensures a better quality of life, reduces complications and allows most patients to lead healthy, active lives.

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