Hirschsprung’s disease is a rare congenital condition that affects the large intestine (colon) and causes problems with passing stool. This condition occurs when nerve cells are missing from the muscles of part or all of a baby’s colon, preventing the intestine from functioning properly. The absence of these nerve cells means the affected section of the colon cannot relax and pass stool through, leading to a blockage.
Hirschsprung disease is usually present at birth and is typically diagnosed in infants, though sometimes it may not be detected until later in childhood or, rarely, in adulthood. The severity of symptoms can vary depending on how much of the colon is affected. Recognizing the symptoms early is crucial for timely diagnosis and management. Below are the key symptoms that may indicate Hirschsprung’s disease.
1. Failure to Pass Meconium Within 48 Hours After Birth
One of the most significant early warning signs of Hirschsprung’s disease in newborns is the failure to pass meconium within the first 24 to 48 hours of life. Meconium is the thick, dark, tar-like stool that newborns typically pass shortly after birth. This is often the first stool a baby produces and consists of materials ingested during time in the womb.
In healthy newborns, meconium is usually passed within the first 24 to 48 hours. However, babies with Hirschsprung disease may experience significant delays or complete inability to pass this first stool. This delay occurs because the affected portion of the intestine lacks the nerve cells needed to propel stool forward through rhythmic muscle contractions called peristalsis.
Healthcare providers closely monitor newborns for this symptom because delayed passage of meconium can indicate an intestinal obstruction or other serious conditions. If your newborn hasn’t passed meconium within 48 hours of birth, medical evaluation is essential to determine the underlying cause.
2. Chronic Constipation
Chronic constipation is one of the most common and persistent symptoms of Hirschsprung disease, particularly in children who weren’t diagnosed as newborns. This isn’t ordinary constipation that resolves with dietary changes or mild interventions—it’s severe, ongoing, and often begins from birth or early infancy.
Children with Hirschsprung’s disease experience constipation because the affected segment of their colon cannot relax and allow stool to pass through normally. The stool becomes trapped in the colon above the affected area, leading to progressive buildup and hardening of fecal matter. This can result in bowel movements that occur only every few days or even weeks without medical intervention.
The constipation associated with Hirschsprung disease typically doesn’t respond well to conventional treatments such as increased fiber intake, adequate hydration, or over-the-counter laxatives. Parents may notice that despite their best efforts and trying various remedies, their child continues to struggle with severe constipation. This persistent nature of the symptom often prompts further medical investigation that may lead to the diagnosis.
3. Abdominal Distension and Swelling
Abdominal distension, or a visibly swollen and bloated belly, is a prominent symptom of Hirschsprung’s disease. This occurs as a direct result of stool and gas building up in the intestine above the affected area that lacks nerve cells. The abdomen may appear noticeably enlarged, tight, and drum-like when tapped.
The degree of distension can vary from mild to severe depending on how much stool has accumulated and how much of the colon is affected. In newborns and infants, the swollen abdomen may be particularly noticeable because their abdominal muscles are not yet well-developed, making the distension more apparent. Parents might notice that their baby’s belly appears disproportionately large compared to the rest of their body.
The abdominal swelling may worsen progressively if the condition goes undiagnosed or untreated. In severe cases, the distension can become uncomfortable or painful for the child. The swollen abdomen may feel firm or hard to the touch, and the child may show signs of discomfort when the area is pressed. This symptom often prompts parents to seek medical attention, especially when accompanied by other concerning signs.
4. Vomiting, Particularly Bile-Stained Vomit
Vomiting is another significant symptom that can occur in infants and children with Hirschsprung disease. What makes this symptom particularly concerning is when the vomit appears green or yellow-green in color, which indicates the presence of bile. Bile-stained vomiting is often a red flag that suggests an intestinal obstruction.
The vomiting occurs because when stool cannot pass through the affected portion of the intestine, it creates a backup that can eventually affect the entire digestive system. As the intestinal contents have nowhere to go forward, they may reverse direction, leading to vomiting. The green or yellow coloration comes from bile, a digestive fluid produced by the liver that normally flows through the small intestine.
In newborns with Hirschsprung’s disease, vomiting may begin within the first few days of life, particularly if they attempt to feed. The baby may initially tolerate feedings but then vomit shortly afterward. Older infants and children may experience periodic episodes of vomiting, especially during times when the constipation and intestinal blockage worsen. Bile-stained vomiting always requires immediate medical evaluation as it can indicate a serious intestinal problem.
5. Explosive Diarrhea After Rectal Examination or Enema
A characteristic and somewhat paradoxical symptom of Hirschsprung’s disease is the occurrence of explosive diarrhea following a rectal examination or after receiving an enema. While the primary problem is an inability to pass stool normally, when the blockage is temporarily relieved through manual intervention, a large amount of stool may suddenly be released.
This happens because stool accumulates above the affected segment of the intestine, and when pressure is applied from below during a rectal exam or when fluid is introduced through an enema, it can temporarily open the blocked pathway. The built-up stool then rushes out forcefully, often appearing as watery or loose stool mixed with harder fecal matter.
Healthcare providers often note this pattern as a diagnostic clue. Parents might report that their child, who has been severely constipated, suddenly has a massive bowel movement after a medical examination or intervention. The stool may have an extremely foul odor due to prolonged retention in the intestine. This symptom pattern—chronic constipation alternating with explosive diarrhea after intervention—is highly suggestive of Hirschsprung disease and warrants further investigation.
6. Failure to Thrive and Poor Weight Gain
Failure to thrive refers to a condition where an infant or child fails to gain weight and grow at the expected rate for their age. This is a serious symptom that can occur in babies and children with Hirschsprung’s disease, particularly if the condition goes undiagnosed or untreated for an extended period.
The failure to thrive happens for several reasons. First, when the intestine is partially or completely blocked, the child may experience poor appetite or refuse to eat because eating causes discomfort. Second, even when the child does eat, the intestinal dysfunction may interfere with proper absorption of nutrients. Third, the body expends extra energy dealing with the chronic intestinal obstruction and any associated inflammation or infection.
Parents and pediatricians may notice that the child falls off their growth curve on standard growth charts. The infant may not reach expected weight milestones, may lose weight, or may fail to gain weight despite adequate feeding attempts. The child may also appear malnourished, with decreased muscle mass and subcutaneous fat. In addition to poor weight gain, the child may show delayed developmental milestones and appear lethargic or less active than expected. This symptom is concerning because proper nutrition and growth during infancy and early childhood are critical for overall development.
7. Enterocolitis Symptoms
Enterocolitis is a serious and potentially life-threatening complication of Hirschsprung disease that involves inflammation of the intestine. This condition can develop when bacteria overgrow in the stool-filled intestine, leading to infection and inflammation. Enterocolitis is considered a medical emergency and requires immediate treatment.
Symptoms of enterocolitis associated with Hirschsprung’s disease include:
- Fever: The child may develop a high temperature as the body responds to the intestinal infection.
- Severe abdominal distension: The belly becomes markedly swollen, often more than usual, and may be very tender to touch.
- Explosive, foul-smelling diarrhea: Unlike the chronic constipation, the child suddenly develops severe, watery diarrhea that has an extremely unpleasant odor and may contain blood or mucus.
- Lethargy and decreased activity: The child appears very sick, weak, and unresponsive.
- Decreased feeding or refusal to eat: Infants may refuse to breastfeed or take a bottle.
- Signs of sepsis: In severe cases, the infection can spread to the bloodstream, causing signs of systemic infection including rapid heart rate, rapid breathing, and poor circulation.
Enterocolitis can occur before or after surgical treatment for Hirschsprung disease, though it’s more common in undiagnosed or untreated cases. This complication underscores the importance of early diagnosis and appropriate management of Hirschsprung’s disease. Any parent whose child has been diagnosed with Hirschsprung disease should be educated about the warning signs of enterocolitis and instructed to seek immediate medical care if these symptoms develop.
Main Causes of Hirschsprung’s Disease
Hirschsprung disease is a congenital condition, meaning it is present from birth. The exact cause is not completely understood, but research has identified several factors that contribute to the development of this condition:
Abnormal Development of Nerve Cells: During fetal development, nerve cells called ganglion cells normally migrate along the intestine from top to bottom, reaching the end of the colon by about the 12th week of pregnancy. In Hirschsprung’s disease, these nerve cells stop migrating before reaching the end of the colon, leaving a section without the necessary nerve cells to control intestinal muscle contractions. The reason this migration stops prematurely is not fully understood.
Genetic Factors: Genetics play a significant role in Hirschsprung disease. The condition can run in families, and children with a sibling who has the condition are at higher risk. Researchers have identified several genes associated with Hirschsprung’s disease, including the RET gene, which is involved in nerve cell development. Mutations in this and other genes can disrupt the normal migration and development of ganglion cells in the intestine.
Associated Genetic Syndromes: Hirschsprung disease occurs more frequently in children with certain genetic syndromes and chromosomal abnormalities, including Down syndrome (trisomy 21), which significantly increases the risk. Other associated conditions include multiple endocrine neoplasia type 2 (MEN2), Waardenburg syndrome, and congenital central hypoventilation syndrome. The presence of these conditions suggests shared genetic pathways in development.
Gender: Hirschsprung’s disease is more common in males than females, occurring approximately four times more often in boys. The reasons for this gender difference are not completely clear but may relate to how genes associated with the condition are expressed differently in males and females.
Family History: Having a family member with Hirschsprung disease increases the risk, suggesting a hereditary component. If one child in a family has the condition, there is an increased chance that subsequent children may also be affected, though the exact risk depends on various factors including which genes are involved and the extent of the disease in the affected family member.
Frequently Asked Questions
Can Hirschsprung’s disease be detected before birth?
In most cases, Hirschsprung disease cannot be detected through routine prenatal ultrasounds. However, some prenatal ultrasounds may show signs such as dilated loops of bowel or polyhydramnios (excess amniotic fluid), which might prompt further investigation after birth. The condition is typically diagnosed after birth based on symptoms and diagnostic tests.
Is Hirschsprung’s disease common?
Hirschsprung disease is considered a rare condition, occurring in approximately 1 in 5,000 live births. It is more common in males than females and more frequently diagnosed in children with certain genetic syndromes, particularly Down syndrome.
Can adults have Hirschsprung’s disease?
Yes, though rare, some cases of Hirschsprung disease are not diagnosed until adolescence or adulthood. These are typically milder cases where only a very short segment of the colon is affected. Adults with undiagnosed Hirschsprung’s disease usually have a lifelong history of severe chronic constipation that doesn’t respond well to standard treatments.
What tests are used to diagnose Hirschsprung’s disease?
Several tests can help diagnose Hirschsprung disease, including a contrast enema (X-ray with contrast dye), anorectal manometry (which measures pressure and reflexes in the rectum), and rectal biopsy (the definitive test, where a small sample of rectal tissue is examined under a microscope to check for the absence of nerve cells).
Is there a cure for Hirschsprung’s disease?
While this article focuses on symptoms rather than treatment, it’s worth noting that Hirschsprung disease typically requires surgical intervention to remove the affected portion of the intestine and reconnect the healthy sections. Most children who receive appropriate treatment go on to have normal or near-normal bowel function, though some may experience ongoing bowel management issues.
Can Hirschsprung’s disease cause long-term complications?
Even with appropriate management, some individuals with Hirschsprung disease may experience long-term issues such as chronic constipation, soiling or fecal incontinence, enterocolitis episodes, and in rare cases, intestinal obstruction. Regular follow-up with healthcare providers is important for managing these potential complications.
What should I do if I suspect my child has Hirschsprung’s disease?
If your newborn hasn’t passed meconium within 48 hours of birth, or if your infant or child shows signs of chronic constipation, abdominal distension, poor weight gain, or any of the other symptoms described in this article, contact your pediatrician immediately. Early diagnosis and intervention can prevent serious complications such as enterocolitis and intestinal perforation.
References:
- Mayo Clinic – Hirschsprung’s Disease
- National Institute of Diabetes and Digestive and Kidney Diseases – Hirschsprung’s Disease
- Boston Children’s Hospital – Hirschsprung’s Disease
- MedlinePlus – Hirschsprung’s Disease
- StatPearls – Hirschsprung Disease
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