Hirschsprung Disease in Children or Newborns: Symptoms, Causes, Diagnosis, Treatment and Prediction

It is a condition that afflicts the large intestine (colon) and causes problems with stool stools.

Hirschsprung’s disease is present when a baby is born (congenital) and the results show the lack of nerve cells in the muscles in part or all of the baby’s colon.

A newborn who has Hirschsprung’s disease is usually unable to have a bowel movement in the first days after birth.

In mild cases, the condition will not be detected until later in childhood. Hirschsprung’s disease is treated with surgery to avoid or eliminate the diseased part of the colon.

Most cases of Hirschsprung’s disease are diagnosed in the newborn period. Hirschsprung’s disease can occur in any newborn who does not pass meconium within 24 to 48 hours after birth.

Although the contrast enema is useful to establish the diagnosis, full-thickness rectal biopsy remains the standard criterion.

Historical notes

Although this condition was described by Ruysch in 1691 and popularized by Hirschsprung in 1886, the pathophysiology was not clearly determined until the mid-twentieth century, when Whitehouse and Kernohan reported aganglionosis of the distal colon as a cause of obstruction in a number of cases.

In 1949, Swenson described the first consistent definitive procedure for Hirschsprung’s disease, rectosigmoidectomy with coloanal anastomosis.

Since then, other operations have been described, including the Duhamel and Soave techniques.

More recently, early diagnosis and advances in surgical techniques have resulted in a decrease in morbidity and mortality in patients with Hirschsprung’s disease.

symptom

The signs and symptoms of Hirschsprung’s disease vary with the severity of the condition. They usually appear shortly after birth, but sometimes the disease is evidenced a few years later in childhood.

The most obvious sign of Hirschsprung’s disease is the fact that a newborn does not have a bowel movement within 48 hours after birth.

Other symptoms may include:

  • Bloated belly
  • Vomiting, including vomiting with green or brown material.
  • Constipation or gas
  • Diarrhea.
  • In older children, the signs and symptoms may include:
  • Bloated Belly
  • Chronic constipation
  • Gas.
  • Deficiency in weight gain.
  • Fatigue.

Causes of Hirschsprung’s disease

It is not clear what causes Hirschsprung’s disease. Sometimes it occurs in a hereditary way and may in some cases be associated with a genetic mutation.

This disease occurs when the nerve cells in the colon are not completely formed. The nerve cells are critical for the functioning of the colon.

They control the normal muscle contractions that allow food to move through the intestines.

As a baby develops before birth, bundles of nerve cells (ganglia) usually begin to form between the muscle layers along the length of the colon.

This process begins in the upper part of the colon and ends in the lower part (the rectum). In children who have Hirschsprung’s disease, the growth process of these nerves can not be completed.

More commonly, the ganglia can not be formed (aganglia) in the last segment of the colon. Sometimes, aganglia affects the entire colon and even part of the small intestine.

Tests and diagnosis

X-ray in the abdomen

Using a contrast medium, it is placed in the intestine through a special tube that is inserted into the rectum. The barium fills and covers the lining of the intestine, creating a clear silhouette of the colon and rectum.

The x-ray often shows a clear contrast between the narrow part of the intestine without nerves and the normal section, but often the inflamed part of the intestine lies behind it.

Measurement of muscle control around the rectum.

A manometry test is usually performed on older children and adults. During the manometry test, the doctor inflates a balloon into the rectum.

The surrounding muscle should relax as a result. If you do not, Hirschsprung’s disease may be the cause.

Extraction of a tissue sample from the colon for evaluation.

Biopsy is the safest way to identify Hirschsprung’s disease. A sample of tissue can be collected through a suction device and performed on an outpatient basis, which means that it does not require hospitalization.

Pathophysiology

Three nerve plexuses innervate the intestine, the submucosal plexus (Meissner), the myenteric plexus (Auerbach), and the smallest mucosal plexus.

All these plexuses are finely integrated and are involved in all aspects of bowel function, including absorption, secretion, motility and regulation of blood flow.

Normal motility is mainly under the control of intrinsic neurons. In the absence of extrinsic signals, intestinal function remains adequate due to the complex reflective architecture of the enteric nervous system.

In another order of ideas, the contraction and relaxation of the intestinal smooth muscle are under the control of the enteric ganglia. The majority of enteric nerve activation causes muscle relaxation, mediated by nitric oxide and other enteric neurotransmitters.

The extrinsic neuronal afferents contain cholinergic and adrenergic fibers. Cholinergic fibers generally cause contraction, whereas adrenergic fibers cause mainly inhibition.

In patients with Hirschsprung’s disease, the myoenteric and submucosal plexuses are absent. Also, the anus is invariably affected, and the aganglionosis continues proximally at a variable distance.

In the absence of reflexes, control of the intestinal smooth muscle is overwhelmingly extrinsic. The activity of both the cholinergic system and the adrenergic system is 2-3 times greater than that of the normal intestine.

It is believed that the cholinergic system (exciter) predominates over the adrenergic system (inhibitor), which leads to an increase in smooth muscle tone. With the loss of intrinsic enteric relaxation impulses, the increase in muscle tone has no opposition.

This phenomenon leads to an imbalance of the smooth muscle contractility, to uncoordinated peristalsis and to a functional obstruction.

The enteric ganglion cells are derived from the neural crest during embryonic development.

In normal development, neuroblasts are found in the esophagus at the fifth week of gestation, and migrate to the small intestine by the seventh week and to the colon by the twelfth week.

A possible etiology of Hirschsprung’s disease is the arrest of the migration of aboral neuroblasts.

Alternatively, although normal cell migration may occur, neuroblasts may be subject to apoptosis, failure of proliferation or inadequate differentiation within the affected distal intestinal segment.

Fibronectin, laminin, the neuronal cell adhesion molecule and the neurotrophic factors present in the intestinal stroma are necessary for the normal development of the enteric ganglion, while its absence or dysfunction may also have a role in the etiology of Hirschsprung’s disease .

The researchers have also identified several genes whose incorrect expression results in a phenotype of Hirschsprung’s disease.

Association studies at the genomic level (GWAS) in Europeans and Asians have identified three common variants of disease susceptibility at loci, which is a low frequency variant of SEMA3 that has been associated with Europeans.

Proto-oncogene has been implicated in several studies of the pathogenesis of Hirschsprung.

It was thus that colleagues discovered that rare variants of proontogenes were associated with more severe phenotypes among Chinese Hirschsprung patients.

Doc. Leon and his colleagues determined that the sporadic proontogene was a consequence of coding mutations in patients with Hirschsprung, which resulted in the truncated protein.

Treatments and medicines for Hirschsprung’s disease

Surgery

Hirschsprung’s disease is treated with surgery to bypass the part of the colon that does not have nerve cells (ganglia).

The lining of the diseased part of the colon is stripped away, and the normal colon is pulled through the colon from the inside and fixed to the anus.

This is usually done using minimally invasive (laparoscopic) methods, which operates through the anus. In children who are very sick, surgery can be done in two steps.

First, the abnormal part of the colon is removed and the healthy portion is connected to the abdominal wall through a small hole (ostomy).

Then it comes out of the body through a bag that connects to the end of the intestine that protrudes through the hole in the abdomen. This allows time for the lower part of the colon to heal.

The ostomy procedures include:

Ileostomy With an ileostomy, the doctor removes the entire colon. Stool leaves the body through the end of the small intestine.

Colostomy With a colostomy, the doctor removes a part of the intact colon. The stool leaves the body through the end of the large intestine.

Then the doctor closes the ostomy and connects the healthy part of the intestine to the rectum or anus.

Lifestyle and home remedies

Children may experience constipation after surgery to correct Hirschsprung’s disease. To help control constipation:

Eat foods rich in fiber (fruits and vegetables).

Increase fluids.

Encourage physical activity. Daily aerobic activity helps promote regular bowel movements.

Finally, a timely diagnosis can avoid more serious complications, and allow adequate definitive surgery with great long-term results, especially with the use of gastrointestinal mechanical sutures, thus avoiding postoperative complications.

Forecast

The reports of long-term results after the definitive repair of Hirschsprung’s disease are conflicting. Some researchers report a high degree of satisfaction, while others report a significant incidence of constipation and incontinence .

In general, more than 90% of patients with Hirschsprung’s disease report satisfactory results; however, many patients experience impaired bowel function for several years before normal continence is established.

Approximately 1% of patients with Hirschsprung’s disease have debilitating incontinence that requires a permanent colostomy .

Total colonic aganglionosis is associated with a worse outcome, with 33% of patients with persistent incontinence and 14% with a permanent ileostomy. Patients with associated chromosomal abnormalities and syndromes also have poorer clinical outcomes.

Mortality and morbidity

Hirschsprung’s disease is limited to the rectosigmoid region in approximately 75% of cases. Approximately 60% of infants with Hirschsprung’s disease have an associated condition, ranging from subtle to severe.

Ophthalmological problems affect 43% of infants, 20% have congenital anomalies of the genitourinary tract, 5% have congenital heart diseases, 5% have auditory alterations and 2% have anomalies in the central nervous system.