Hirschsprung's disease (HD), also known as congenital aganglionic megacolon disease, is a congenital disease in which ganglionic cells fail to develop in the large intestine. This commonly presents as delayed or failed passage of meconium around birth.

What causes Aganglionic Megacolon?

What is Hirschsprung's disease? Hirschsprung's disease (also called congenital aganglionic megacolon) occurs when some of your baby's intestinal nerve cells (ganglion cells) don't develop properly, delaying the progression of stool through the intestines.

What is the main pathophysiological problem in Hirschsprung's disease?

Hirschsprung's disease occurs when nerve cells in the colon don't form completely. Nerves in the colon control the muscle contractions that move food through the bowels. Without the contractions, stool stays in the large intestine.

Why is there poor bowel motility with Hirschsprung's disease?

In Hirschsprung disease a part of the large intestine lacks normal nerve cells. This means that digested food and stool can't move forward through that part of the digestive tract. The large intestine becomes blocked with stool.

What is meant by congenital megacolon?

In digestive system disease: Congenital megacolon. Aganglionic megacolon, or Hirschsprung disease, is a condition of unknown cause that is characterized by the absence of ganglion cells and normal nerve fibres from the distal (or lower) 3 to 40 cm (1 to 16 inches) of the large intestine.

Hirschsprung disease (congenital aganglionic megacolon) - causes & symptoms

What causes megacolon in humans?

Infection. One of the most common causes of megacolon is infection. This includes bacterial infections such as Clostridium difficile, Salmonella, Shigella, and Campylobacter, as well as parasitic infections such as Trypanosoma cruzi (commonly known as Chagas disease) and Entamoeba histolytica.

What is the complication of Hirschsprung disease?

Enterocolitis, chronic obstruction, incontinence, constipation, and late mortality may occur late after surgery. Rectovesical fistulas have also been reported in the literature. Enterocolitis accounts for significant morbidity and mortality in patients with Hirschsprung disease and can progress into toxic megacolon.

What are the signs and symptoms of megacolon?

• abdominal pain.
• bloating of the abdomen (distention)
• abdominal tenderness.
• fever.
• rapid heart rate (tachycardia)
• shock.
• bloody or profuse diarrhea.
• painful bowel movements.

Can you poop with Hirschsprung disease?

Most children treated surgically for Hirschsprung disease have an excellent outcome. Most can pass stool normally and have no lasting complications. A few kids might continue to have symptoms, including constipation and bowel control problems.

Which of the following is the most current treatment for Hirschsprung's disease?

For most people, Hirschsprung's disease is treated with surgery to bypass or remove the part of the colon that's lacking nerve cells.

What is the definitive diagnosis of Hirschsprung's disease?

Rectal biopsy: This test gives the definitive diagnosis. It involves taking a sample of the cells in the rectum for a pathologist to view under a microscope. The pathologist confirms that a child has Hirschsprung disease based on the absence of ganglion cells and other abnormal nerve-related findings.

What is the other name of Hirschsprung disease?

Hirschsprung's disease is a rare congenital disorder that causes an obstruction (or blockage) of the intestine. This prevents normal bowel movements. You might hear doctors refer to this condition with other names, such as: Congenital megacolon or megarectum.

What are the parts of the large intestine and their functions?

The large intestine, or large bowel, is the last part of the digestive system in vertebrate animals. Its function is to absorb water from the remaining indigestible food matter, and then to pass the useless waste material from the body. The large intestine consists of the cecum, colon, rectum, and anal canal.

What is the main cause of Hirschsprung disease?

While a mutation in a single gene sometimes causes the condition, mutations in multiple genes may be required in some cases. The genetic cause of the condition is unknown in approximately half of affected individuals. Mutations in the RET gene are the most common known genetic cause of Hirschsprung disease.

What causes Hirschsprung's?

What causes Hirschsprung disease? During early development of the baby in the mother's womb, nerve cells stop growing toward the end of a child's bowel causing Hirschsprung disease. Most of these cells start at the beginning of the bowel and grow toward the end.

Why barium enema is ordered to your client with Hirschsprung's disease?

If perforation and enterocolitis are not suspected, an unprepared single-contrast barium enema may help establish the diagnosis by identifying a transition zone between a narrowed aganglionic segment and a dilated and normally innervated segment.

Is Megacolon hereditary?

Although clinically chronic megacolon can occur in any age group, inherited types usually present in young patients, and acquired types usually present in older patients.

Can a stretched colon shrink?

The colon has to empty daily long enough for it to shrink back to a normal size and for its tone to return to normal. This process takes months longer than it takes for the symptoms to improve. How do I help my child if they are afraid to go because it hurts?

Is Hirschsprung disease autosomal dominant?

If HSCR occurs as part of a genetic syndrome, then it is inherited in a specific pattern, according to the specific syndrome . For example, the inheritance may be autosomal recessive , autosomal dominant , or X-linked recessive , depending on the exact cause of the syndrome.

What is the treatment for megacolon?

Patients with idiopathic megacolon or megarectum may require surgery if they have refractory symptoms. Depending on age, pelvic floor, and anal sphincter function, patients who have isolated megacolon can be treated with either subtotal colectomy with ileorectostomy or diverting loop ileostomy.

How do you shrink a megacolon?

1. Medicines. Treating the original condition or infection may help reduce toxic megacolon. ...
2. Bowel rest and bowel decompression. These treatments remove gas and substances filling the colon.
3. IV fluids. You may be given an IV of fluids and electrolytes to help nourish your body and prevent dehydration.
4. Surgery.

How do you control proctitis?

1. Change your diet. A soft, bland diet may reduce proctitis pain. Avoid spicy, acidic, or fatty foods during bouts of diarrhea. ...
2. Track your symptoms. Pay attention to the timing of your symptoms. ...
3. Use a condom. Use a condom during anal sex.

What is Aganglionic segment?

The basic pathology underlying congenital megacolon, or Hirschsprung's disease, is aganglionosis, or total absence of ganglion cells, in the intrinsic nerve supply of the bowel. The aganglionic area extends proximally from the anal sphincter and involves varying lengths of colon.

What is the possible complication of Hirschsprung disease after surgery?

Most people who undergo surgery for Hirschsprung's disease recover without problems. Any time a person has a general anesthesia and surgery, however, there is a possibility of complications. These include bleeding, infection or a blockage of the bowel after surgery due to scarring or other factors.

Can an adult develop Hirschsprung's disease?

HD is not commonly seen in adults as most patients are diagnosed early in life and are treated surgically. However, some patients with mild symptoms may go undiagnosed into adulthood, likely because the colonic region proximal to the distally obstructed segment assumes a compensatory role [5,6].