Which are the symptoms of Hirschsprung Disease?

Symptoms of Hirschsprung Disease

Hirschsprung Disease, also known as congenital aganglionic megacolon, is a rare condition that affects the large intestine (colon) and causes problems with bowel movements. It occurs when certain nerve cells, called ganglion cells, are missing from parts of the colon. These ganglion cells are responsible for coordinating the muscle contractions that propel stool through the intestines. Without them, the affected portion of the colon becomes blocked, leading to a range of symptoms.

1. Failure to pass meconium

One of the earliest signs of Hirschsprung Disease is the failure to pass meconium, which is the thick, greenish-black substance that makes up a newborn's first bowel movements. Infants with this condition may not pass meconium within the first 48 hours after birth, or they may pass only a small amount. This is often the first indication that something may be wrong.

2. Chronic constipation

Chronic constipation is a hallmark symptom of Hirschsprung Disease. It is characterized by infrequent bowel movements, difficulty passing stool, and the presence of hard, dry stools. Despite efforts to relieve constipation through dietary changes or laxatives, individuals with this condition may still experience persistent constipation.

3. Abdominal distension

Abdominal distension, or a swollen belly, is a common symptom of Hirschsprung Disease. The blocked portion of the colon causes a buildup of stool and gas, leading to abdominal bloating and discomfort. The distension may be more noticeable after meals or when the individual is constipated.

4. Vomiting

In some cases, Hirschsprung Disease can cause vomiting. The blockage in the colon can lead to a backup of stool and digestive fluids, which may result in episodes of vomiting. Vomiting may be particularly severe if the obstruction is high in the intestines.

5. Slow growth and weight gain

Children with Hirschsprung Disease may have difficulty gaining weight and growing at a normal rate. The chronic constipation and poor bowel function can affect the absorption of nutrients from food, leading to inadequate weight gain and growth retardation.

6. Diarrhea

While constipation is the more common bowel problem associated with Hirschsprung Disease, some individuals may experience episodes of diarrhea. This can occur when liquid stool bypasses the blocked segment of the colon and leaks into the unobstructed portion, resulting in loose or watery stools.

7. Foul-smelling stools

Stools of individuals with Hirschsprung Disease often have a foul odor. This is due to the accumulation of stool in the blocked portion of the colon, which can lead to bacterial overgrowth and the production of smelly gases.

8. Intestinal obstruction

In severe cases, Hirschsprung Disease can lead to a complete intestinal obstruction. This occurs when the blockage in the colon becomes so severe that no stool or gas can pass through. Intestinal obstruction is a medical emergency and requires immediate intervention to relieve the blockage.

If you suspect that you or your child may have Hirschsprung Disease, it is important to consult a healthcare professional for a proper diagnosis. The symptoms of this condition can vary in severity, and early detection and treatment are crucial for managing the condition effectively.