Definition

Hirschsprung's disease is a congenital disorder in newborns that causes feces to become stuck in the large intestine. This condition is also known as congenital aganglionic megacolon. It can lead to newborns being unable to have bowel movements since birth. Hirschsprung's disease is caused by abnormalities in the nerves that control the movement of the large intestine. During gestation, the ganglion cells in the baby's large intestine fail to mature properly, leading to an inability to expel feces, which results in fecal accumulation and the inability to defecate. Symptoms of Hirschsprung's disease may appear at birth or later in childhood if the condition is mild. Typically, this condition becomes apparent in newborns within the first two months after birth.

Hirschsprung's disease is an uncommon medical condition. Approximately 1 in 5000 babies is affected by this condition. Mitigating risk factors can help to prevent Hirschsprung's disease.

Causes

During fetal development, nerve cells commonly start to form. The nerve cells are components of the digestive system that spans from the esophagus to the stomach and terminates at the anus. An infant typically possesses approximately 500 million varieties of nerve cells that develop from the esophagus to the anus. The many nerve cells have various functions, including the movement or transportation of food inside the digestive system.

The process of nerve cell formation differs in infants with Hirschsprung's disease. In Hirschsprung's disease, the development of a baby's nerve cells halts at the terminal part of the large intestine or just before the rectum and anus. Newborn babies with Hirschsprung's disease typically experience difficulty passing stool after delivery. Nerve cells may degenerate or cease to proliferate in certain infants within the digestive tract.

When nerve cell proliferation stops, it can lead to constipation in specific body areas. This causes feces to become impacted, making it hard to pass and leading to accumulation in the digestive tract. Consequently, a portion of the infant's intestines becomes obstructed, causing the stomach to seem larger and distended. The etiology of non-ganglion cells in infants with Hirschsprung's disease remains uncertain.

However, the cause of Hirschsprung's disease is presumed to be due to:

• Inherited genetic traits
• Family history of Hirschsprung's illness. Siblings of a child with Hirschsprung's disease have a 3–12% likelihood of also having this disease.

Risk factor

Multiple conditions have been identified as potential risk factors for this disease, which include:

• Gender. Hirschsprung's disease is comparatively more advanced in males.
• Being affected by Hirschsprung's disease in a sibling. The risk of Hirschsprung's disease developing in a sibling is greater when one sibling has the condition.
• Parents. The possibility that a child will develop Hirschsprung's disease is increased if the mother has previously experienced this condition.
• Congenital disorder. Genetic conditions, including Down syndrome and congenital heart problems, increase Hirschsprung's disease risk.

Symptoms

The signs and symptoms of Hirschsprung's disease range in severity. Symptoms typically manifest postpartum, though they may not be evident until later. The primary indicator of Hirschsprung's disease is the inability of the newborn to pass stool within 48 hours of birth. Typically, newborns pass meconium, their initial feces, shortly after birth. In addition, other symptoms of Hirschsprung's disease that newborn neonates may suffer include:

• Distended and bloated abdomen
• Green or brown vomit
• Constipation
• Irritable or restless
• Fever
• Urinary retention
• Failure to pass meconium after birth
• Infrequent bowel motions
• Jaundice
• Breastfeeding difficulties
• Problems with weight gain

Infants with Hirschsprung's disease may also contract life-threatening intestinal infections, enterocolitis, or gastroenteritis. Certain infants might exhibit symptoms of Hirschsprung's disease only as they mature. Signs consist of:

• Enlarged and bloated abdomen
• Worse constipation
• Delayed growth or failure to thrive in children
• Fatigue
• Fecal impaction (feces remain in the rectum/end of the large intestine)
• Malnutrition (nutritional imbalance)
• Difficulties gaining weight

Diagnosis

The following steps are required to establish a diagnosis of Hirschsprung's disease:

• In-depth interview (anamnesis) regarding the symptoms experienced
• A physical examination includes a rectal examination
• Additional diagnostic procedures that may be performed to bolster the certainty of a Hirschsprung diagnosis consist of using X-rays to provide a clearer image of the condition of the large intestine.
• A biopsy is the extraction of a tissue sample from the large intestine. The specimen will be microscopically examined to diagnose Hirschsprung's disease.
• X-ray of the abdomen using contrast material. A specialized catheter is inserted into the rectum, and a barium or another contrast dye is introduced into the intestine. The x-ray will clearly distinguish the nerveless segment of the intestine from the healthy segment.
• To determine muscle control around the rectum (the distal end of the large intestine), anal manometry is performed. Manometry examinations are customarily conducted on adults and older adolescents. As a consequence of the physician inflating a balloon within the rectum, the adjacent muscles should relax. Hirschsprung's disease may otherwise be the underlying cause.

Management

Hirschsprung's disease is a critical condition that requires immediate surgical intervention for treatment. Stable patients typically necessitate a single surgical procedure, specifically intestinal retraction surgery. To mitigate the potential for complications, ostomy surgery is typically required in cases where the patient's condition is unstable, preterm birth, low birth weight, or illness is present.

• If the patient is stable, intestinal withdrawal (also known as pull-through surgery) may be utilized. The doctor will remove the nerveless inner portion of the large intestine and then connect the healthy intestine directly to the rectum or anus via pull-and-connect.
  
  
• Ostomy procedures are commonly conducted on unstable patients, such as infants born prematurely, those with low birth weight, or those who are ill. This method consists of two phases. Eliminating the problematic portion of the patient's intestine is the initial step. In the second stage, the healthy intestine will be connected to the rectum or anus, and the opening in the stomach will be sealed.

Complications

Among the potential complications of Hirschsprung's disease are possibly life-threatening intestinal infections (enterocolitis). Surgery for treating this disease may give rise to complications unrelated to the disease itself. Among the complications associated with surgery are:

• Small perforations or ruptures were observed within the intestinal tract.
• Fecal incontinence (inability to regulate defecation)
• Dehydration
• Malnutrition
• A megacolon is characterized by an abnormal enlargement or dilation of the large intestine.

Prevention

No preventive actions can be implemented against Hirschsprung's disease. However, prevention efforts may concentrate on inherited risk factors and causes. Pregnant individuals are encouraged to utilize routine methods of contraception. Early detection of a congenital abnormality may be possible with the assistance of a gynecologist. Timely identification of Hirschsprung's disease can avert the development of additional, possibly life-threatening complications.

When to see a doctor?

If your child exhibits symptoms, you must visit your doctor or the local healthcare facility promptly. Early treatment for Hirschsprung's disease can improve the child's intestinal condition and prevent potential complications.