Hirschsprung Disease (HD) is a digestive disorder characterized by swollen abdomen, constipation and failure to defecate in children. Get detailed about the causes, symptoms, diagnosis and treatment of this disorder.
What is Hirschsprung Disease?
It is a gut disorder that results in an absence of ganglion cells in the distal colon. This results in interruption of the relaxing of the colon, leading to an obstruction. In most cases, only the distal part of the colon is affected. In around 5% of patients, the entire colon gets affected.
The condition is also known as Congenital Aganglionic Megacolon.
History of Hirschsprung Disease
The disease got its name from Harald Hirschspring, who described the first case of this disease. The disorder was first explained in 1691 by a scientist named Ruysch. However, it was Hirschsprung (a Danish physician) who popularized this disease by explaining the death of two infants suffering from this condition in 1888. At that time, however, the pathophysiology of the disease was still not clearly understood. In the 20th century, two scientists named Whitehouse and Kernohan explained that aganglionosis of the intestine was responsible for this disease.
Causes of Hirschsprung Disease
The exact cause of the disease is still not known. Scientists, however, have proposed that a number of genes such as RET, GDNF, EDNRB, ECE1 and SIP1might be involved with this condition. Recent research has proved that the mutations produced in the RET and EDNRB can be the trigger factors behind the disease. The RET cells are responsible for the movement of ganglion cells during the embryo development. This disease is also associated with some typical syndromes like Congenital Central Hypoventilation Syndrome and Waardenburg-shah syndrome.
Picture 1 – Hirschsprung Disease
This disease is hereditary, which means it can pass from parents to offspring. Those having a family history of the disease or giving birth to a kid suffering from this condition may have another child with this birth defect. However, a person suffering from this disease may not necessarily pass on the defective genes associated with this condition.
Symptoms of Hirschsprung Disease
The symptoms of the disease tend to vary, depending on its severity. In most children, the symptoms appear right after birth. In a few cases, however, it appears in early childhood. In a newborn baby, the symptoms of HD are:
- Difficulty in passing stool
- Constipation and diarrhea
- Weak body posture
- Chronic enterocolitis, observed in some children
The symptoms noticed in the early stages of childhood include:
- Loss of appetite
- Watery stool
Constipation is a common problem observed in sufferers of this ailment. In normal individuals, the removal of stool from the body is assisted by certain muscles which push the stool to anus. It is the Ganglionic cells aid in giving this push. In people suffering from HD, these cells are absent. The process of stool removal is interrupted as a result and constipation occurs.
Diagnosis of Hirschsprung Disease
A number of diagnostic tests are used for the detection of this condition. A propr diagnosis is essential to provide affected children with proper treatment at an early stage. The selection of a particular technique depends on the age at which the disease occurs and the severity of the symptoms. The various techniques used for the diagnosis of HD are:
Although not a confirmatory diagnostic test, it provides some vital information that helps in the diagnosis of HD. The X-ray examination helps detect any possible blockage in the abdomen.
This is a special technique used to check problems in the colon. In this test, the inside organs are coated with a special agent so that they are clearly apparent in the X-ray. The barium enema X-ray is a particular test that is commonly used for this disorder. In this technique barium is used as the contrast agent. Sometimes an alternative agent called gastrograffin is used. In fact, gastrograffin has many advantages over barium, it assists the removal of stool in newborn.
It is one of the most commonly used diagnostic techniques for this disease. In this process, sample cells taken from the rectum are observed under a microscope. The disease is confirmed if the ganglionic cells are absent in the sample. In order to avoid a painful biopsy, a special technique of suction biopsy is used in small children instead of surgical biopsy. Even the surgical biopsy is performed under the influence of anesthesia.
Anorectal Manometeryis a simple diagnostic test used to analyze the condition of reflexes in the rectum. This is another confirmatory rest for HD. In this technique, doctors insert and inflate a small balloon in the rectum of a child suspected of having this condition.
Treatment of Hirschsprung Disease
The treatment of this disease simply involves the removal of the affected section of colon with the help of different surgical methods, which include:
Picture 2 – Hirschsprung Disease Image
In this technique, the affected part of the intestine is removed and the remaining part is connected to the anus. This surgery is categorized into three types- Swenson, Soave and Duhamel. All these techniques are slightly different while being performed. The desired result, however, is the same. In Swenson method, a small part of the affected colon is left untouched. In the Soave technique, the outer wall of the colon is left as it is. In the Duhamel method, a surgical stapler is employed. Pull-through surgery is specially recommended for children suffering from long segment HD. The long segment disease is one in which the major portion of large intestine is affected and a small portion of small intestine is diseased.
Colostomy and Illeostomy
The technique of Pull-through surgery is better for children recently diagnosed with this disease. However, children in advanced stages of the disorder require a different surgery called Ostomy. In this technique, the affected part of the intestine is removed from the body. Thereafter the doctor makes a small cut in the intestine known as stoma. A bag is also attached to the skin around stoma. The stool passes through the stoma and gets collected in the bag. The patient is required to empty the bag at frequent intervals. Once the lower portion of the intestine gets healed, the pull-through surgery is performed. The technique of ostomy is also of two types – Ileostomy and Colostomy. In Ileostomy, the small intestine is connected to the stoma while in colostomy a small part of large intestine is left by the doctor and the stoma is connected with this part.
Parents of HD sufferers should look for the signs of infection in their children after the surgery as they are quite common and cause serious problems. Fever, vomiting and oozing out of blood from the rectum are some of these post-surgical signs of infections.
Unless timely treated, the disorder can give rise to potentially serious complications such as rupture or perforation of the intestine. Naturally, it is important to seek medical attention if your child develops abdominal pain, defecation problems or other symptoms of Hirschsprung Disease. When cured in time, HD sufferers can avoid many of the complications of the disorder.