Hirschsprung s congenital megacolon in children and modern treatment methods

Congenital Hirschsprung’s Disease in Children, also known as congenital megacolon, is a rare condition that affects bowel movement and can cause serious problems if diagnosis and treatment are delayed. This condition usually appears in the first days or months of a child’s life, leading to severe constipation, abdominal bloating, and difficulty passing stool. Understanding the causes, risk factors, and the latest treatment options is crucial for every parent to protect their child’s health and prevent serious complications. In this Dalily Medical article, we will cover everything about congenital megacolon in children, from causes and symptoms to treatment and practical care tips.

What is Hirschsprung’s Disease in Children?

Hirschsprung’s disease is a rare congenital disorder that affects newborns and impacts bowel movement. The main cause is the absence of specific nerve cells, called ganglion cells, in the end of the colon and rectum.
These cells help the colon muscles contract and relax, enabling the child to pass stool normally. Without these nerve cells, the child cannot defecate properly, which may lead to severe constipation and abdominal bloating.

Which Children Are at Risk of Hirschsprung’s Disease?

The disease affects approximately 1 in every 5,000 children.
Boys are more likely to develop the condition than girls.
Children with certain genetic syndromes, such as Down syndrome, have a higher risk.
Around 10% of children with Hirschsprung’s disease also have Down syndrome.

Causes of Hirschsprung’s Disease

✅ Genetic and Hereditary Factors

Some cases occur due to mutations in specific genes, such as the RET gene.
A family history of the disease increases the risk.

✅ Problems in Nerve Cell Development During Pregnancy

During fetal development, some nerve cells responsible for bowel movement (ganglion cells) may fail to form in parts of the colon, leading to the disease.

✅ Associated Genetic Disorders

Children with Down syndrome are more likely to develop Hirschsprung’s disease.

Types of Hirschsprung’s Disease in Children

Hirschsprung’s disease can vary depending on the length of the affected bowel segment and the number of missing nerve cells. Here are the main types:

1️⃣ Short-Segment (Classic / Short-Segment Type)

The most common type.
Affected part is short, usually in the rectum or sigmoid colon.
Symptoms appear very early after birth, including:
- Severe constipation
- Difficulty or delay in passing the first stool (meconium)

2️⃣ Long-Segment

The affected area is longer, possibly reaching the right colon or even the small intestine.
Symptoms are more severe:
- Chronic constipation
- Significant abdominal bloating
- Slow growth in the child

3️⃣ Total Colonic Aganglionosis

The entire colon lacks nerve cells.
Rare but very serious.
Requires extensive surgery and a longer recovery period.

4️⃣ Ultra-Short Segment / Segmental Type

A very small area is affected, usually near the anus.
Symptoms are less obvious, making diagnosis difficult.
May appear as:
- Chronic constipation
- Repeated difficulty in defecation

Basic Facts About Hirschsprung’s Disease

First discovered in 1886 by the Danish physician Harald Hirschsprung, who described children with congenital megacolon caused by the absence of nerve cells responsible for bowel movement.

Prevalence:

Affects roughly 1 in 5,000 newborns (~0.02%).
Most cases are diagnosed in the first or second year of life.
About 50% of children are diagnosed within the first year of birth.

Who is more likely to be affected?

Boys are more prone than girls, approximately 4 boys for every girl.
Affected children usually experience severe constipation and a noticeable delay in passing stool during the first 48 hours after birth.

Early Symptoms of Hirschsprung’s Disease

Persistent abdominal bloating
Frequent vomiting
Delay in passing the first stool (meconium) after birth
Constipation that does not respond to conventional treatment
Poor nutrition due to constant abdominal discomfort
Decreased appetite and persistent crying

Complications in Case of Delayed Diagnosis

If Hirschsprung’s disease is diagnosed late or not treated appropriately, serious complications can occur, such as:

Colitis due to stool accumulation
Fever
Foul-smelling diarrhea
In advanced cases, intestinal perforation, which is life-threatening

This is why early diagnosis and timely surgical intervention are crucial to protect the child from serious complications.

How is Hirschsprung’s Disease Diagnosed in Children?

Diagnosis relies on a set of precise tests that help doctors confirm abnormal bowel movement. The main methods are:

1️⃣ Barium Enema

A thin tube is inserted into the child’s rectum, and a safe contrast dye is injected.
X-rays are taken to visualize the colon.
The images usually reveal a narrow segment lacking nerve cells followed by an abnormally dilated colon.

2️⃣ Rectal Biopsy

The most definitive test for diagnosis.
A small tissue sample is taken from the rectum and examined under a microscope.
If the sample lacks nerve cells, it confirms Hirschsprung’s disease.

3️⃣ Anal Manometry (Recto-Anal Pressure Measurement)

A small balloon is inserted into the rectum and inflated.
In healthy children, the internal anal sphincter relaxes (called the recto-anal inhibitory reflex, RAIR).
In children with Hirschsprung’s, the sphincter does not relax, confirming the disorder.

Success Rate of Hirschsprung’s Surgery in Children

Hirschsprung’s surgery (pull-through procedure) is an effective and essential treatment, with a high success rate. However, some children may experience symptoms or complications after surgery.

⏱️ Success Rate:

Most children show significant improvement after surgery.
Around 50% may experience some post-operative symptoms, especially in the early period.

Possible Complications After Surgery:

Frequent vomiting
Diarrhea or difficulty in bowel movements
Chronic constipation
Abdominal bloating
Difficulty tolerating certain foods
Episodes of enterocolitis (intestinal inflammation)
Rarely: malabsorption if a large portion of the bowel was removed

Appropriate Age for Hirschsprung’s Surgery

The timing of surgery depends on the severity of symptoms and the diagnosis.

Children under 6 months:

If the child does not show severe symptoms like enterocolitis or growth failure, a two-stage surgery is usually preferred.

Children older than 6 months:

Surgery is typically performed in one stage, because the disease may have progressed, leading to complications such as:
- Severe abdominal bloating
- Dilated intestines
- Chronic obstruction before diagnosis
In advanced cases, performing a temporary colostomy is difficult, so definitive surgery is done in the first operation.

Factors Affecting the Success of Hirschsprung’s Surgery

The success of Hirschsprung’s surgery depends on several factors, including:

1️⃣ Child’s Age at Surgery

Early diagnosis significantly increases the chances of a successful operation.
The later the diagnosis, the more complications develop, making surgery more challenging.

2️⃣ Overall Health of the Child

Healthy children without additional medical issues respond better to surgery and recover faster.

3️⃣ Extent of Affected Bowel

Removing a large portion of the intestine can affect nutrient absorption and growth after surgery.

4️⃣ Type of Surgery

Some cases require a colostomy (temporary abdominal opening), which may lead to future complications.
Direct surgery (without colostomy) is preferred if the child’s condition allows.

5️⃣ Surgeon and Medical Team Experience

Success rates are higher when the surgeon is specialized and experienced in pediatric bowel surgery.

Does the Child’s Age Really Affect Surgery Outcome?

Yes, age plays a very important role:

Early diagnosis (from birth):
- The colon is less affected, which helps:
  - Avoid the need for a colostomy
  - Reduce complications
  - Improve chances of full recovery
Late diagnosis:
- Excessive intestinal dilation may occur
- Difficulty in bowel movements
- More complex surgery may be needed

Key point: The earlier the disease is detected, the higher the chances of success and the lower the post-surgery complications.

Symptoms of Hirschsprung’s Disease in Children

Hirschsprung’s disease may appear from the first day after birth or gradually if the case is mild. Symptoms vary by age:

In Newborns:

No bowel movement within the first 48 hours after birth – a major early sign
Abdominal swelling (bloating)
Repeated vomiting, sometimes green-colored (indicating obstruction)
Difficulty feeding or refusal to eat

In Older Children:

Chronic constipation
Persistently bloated abdomen
Large or very hard stools that are difficult to pass
Delayed growth or weight loss due to poor digestion and malabsorption

If you notice these symptoms in your child, consult a doctor immediately for early diagnosis and appropriate treatment.

Duration of Hirschsprung’s Surgery

Surgery usually takes 2–4 hours, depending on the child’s condition and surgeon experience.
After surgery, the child may need to stay in the hospital for 2–3 days to ensure proper bowel function and check for any complications.

✅ Important Tips After Hirschsprung’s Surgery

To help your child recover quickly and avoid complications after surgery, follow these key guidelines carefully:

1. Medication Compliance

The doctor will prescribe painkillers and antibiotics.
Administer them on time and exactly as prescribed to control pain and prevent infections.

2. Wound Care

Keep the surgical wound clean.
Change dressings according to the doctor’s instructions.
Avoid leaving the wound exposed or wet.

3. Delaying Bathing

It’s best to postpone bathing for several days after surgery.
When bathing, ensure water does not touch the wound.

4. Regular Doctor Follow-up

Routine check-ups are essential to monitor the child’s condition and address any unusual symptoms promptly.

5. Complete Rest and Avoid Strenuous Activity

The child should rest and avoid vigorous activities like running or jumping until the wound is fully healed.

Postoperative Care and Advice for Hirschsprung’s Surgery

After Hirschsprung’s surgery (congenital colon dilation), your child will need careful care to speed up healing and prevent complications. Some children may experience diarrhea or irritation around the anus, so following the doctor’s instructions is crucial.

1. Medications

Pain relief medications like paracetamol or ibuprofen are prescribed.
Administer the medications exactly as directed, without delay or dose changes.

2. Wound Care

Wound care is essential after surgery.
Stitches, mild redness, or slight discharge during the first 3–4 weeks is normal.
Clean the wound gently with warm water and mild soap.
The stitches usually dissolve and disappear over time.

3. Diaper Area Care

Frequent bowel movements may cause diaper rash around the anus.
Apply protective creams as prescribed daily.
Continue the cream until bowel movements reduce, usually after a few weeks.
Follow any additional instructions from the doctor for this area.

4. Physical Activity

The child can gradually return to daily activities unless the doctor advises otherwise.
Avoid strenuous movements or pressure on the abdomen until full recovery.

5. Bathing

You may start bathing the child 48 hours after surgery or once the child’s condition improves.
Bathing helps gently clean the anus without pressure or friction.
If the child had a colostomy, the bag can be removed during bathing and replaced afterward.

Recovery Time After Hirschsprung’s Surgery

Typically, the child stays in the hospital 3–7 days post-surgery, depending on their health and response to treatment.
After discharge, careful home care is essential, including:
- Wound care
- Timely medication
- Proper nutrition
- Regular follow-up visits

Can Hirschsprung’s Disease Return After Surgery?

The disease does not recur once the affected part of the intestine is removed.
However, some children may develop enterocolitis after surgery, a relatively common complication.

Signs of Enterocolitis:

Watery or bloody diarrhea
Repeated vomiting
Abdominal bloating
Fever or lethargy

This is a medical emergency requiring immediate treatment with IV antibiotics to control harmful bacteria in the colon.

How Do Doctors Treat Hirschsprung’s Disease?

Treatment is based on:

Early and accurate diagnosis
Temporary colon decompression until surgery
Pull-through surgery to remove the aganglionic segment of the intestine

Treatment Steps:

1. Anal Dilatation:

Using plastic or metal dilators
Done once or twice daily to widen the anal opening and facilitate bowel movements

2. Rectal Irrigation:

Using a catheter and saline solution
Helps empty the bowel and relieve pressure in the colon
Used if dilatation alone is insufficient

Parents are trained by the medical team to perform these procedures at home temporarily until surgery.

When is Hirschsprung’s Surgery Performed?

The surgery schedule is determined with a pediatric surgeon, based on the child’s condition and disease severity.
Pull-through surgery removes the non-nerve-containing segment and connects the healthy intestine to the rectum for normal bowel movements.

⏱ Timing by Disease Type:

Short-Segment HSCR:
- Usually performed within the first few months after birth if the child is stable and there’s no intestinal obstruction.
Long-Segment HSCR:
- The child may first need a colostomy to divert stool outside the body.
- Pull-through surgery is performed later, usually at 10–12 months or when the child reaches the appropriate weight.

⚙️ Surgical Techniques:

1️⃣ One-Stage Surgery:

For healthy children without severe bowel obstruction
Performed through the anus (Pull-Through Procedure), sometimes using endoscopy
Advantages: Minimal surgical intervention, no visible scars

2️⃣ Two-Stage Surgery:

Stage 1: Temporary colostomy to divert stool from a healthy part of the colon
Stage 2: Once the child is 6–12 months old or weighs 6–9 kg, the aganglionic segment is removed and the healthy colon is connected to the anus (anastomosis)
Used for advanced, long-segment cases or when direct surgery isn’t feasible

⚠️ Important Note: There is no medication or conservative treatment for Hirschsprung’s disease; surgery is always required.

ow is Hirschsprung’s Disease Diagnosed in Children?

Diagnosing Hirschsprung’s disease requires several steps and tests to confirm the condition and determine the affected segment of the intestine. The main diagnostic methods include:

1️⃣ Medical History and Physical Examination
The doctor will ask about:

Chronic constipation or difficulty passing stool since birth
Persistent abdominal bloating
Delayed passage of the first stool (meconium)

The physical examination may include:

Observing abdominal bloating
Feeling for masses or stool accumulation in the intestines

2️⃣ Barium Enema (Contrast X-ray)

Used to determine the size of the intestine above the affected segment
Helps locate the part of the colon lacking nerve cells
Typically shows a transition between a dilated segment and a narrow segment, which is a key indicator of the disease

3️⃣ Endoscopic Examination of the Intestine

Performed in some cases
Allows the doctor to take tissue samples (biopsy) from the intestinal lining for microscopic examination

4️⃣ Biopsy – The Definitive Diagnosis

A rectal or intestinal biopsy is the most accurate method to confirm Hirschsprung’s disease
The sample is examined under a microscope to verify the absence of ganglion cells in the affected segment

5️⃣ Additional Tests
Sometimes, the doctor may request:

Blood tests to evaluate the child’s overall health
Neurointestinal function tests, if needed

⚠️ Important Note:
Early diagnosis is crucial to prevent serious complications such as severe abdominal distension or Hirschsprung-associated enterocolitis (HAEC).

⚠️ Potential Complications After Hirschsprung’s Surgery

Most children recover well after pull-through surgery, but some may experience digestive issues postoperatively. The main complications include:

1️⃣ Intestinal Obstruction
Occurs when the child has difficulty passing stool, resembling severe constipation. Possible causes include:

Mechanical obstruction: Physical blockage in the intestines
Internal anal sphincter dysfunction: Failure of the muscle to relax properly
Residual transitional zone: Insufficient removal of the affected intestine during surgery
Colonic dysmotility: Colon does not function properly
Functional constipation: Child avoids defecation for various reasons