What is Hirschsprung (Mega Colon) Disease?

Hirschsprung's disease, also known as “congenital aganglionic megacolon”, is a disease caused by the absence of nerve cells that allow the intestines to relax. In this disease, the affected part of the intestine remains contracted because there are no nerve cells that provide relaxation. The resulting obstruction prevents feces from passing downwards. It usually affects the colon, especially the last part of the large intestine, but can also affect the entire intestine, even the stomach and esophagus. Hirschsprung's disease accounts for 33% of the causes of large bowel obstruction in newborn babies.

How Does Hirschsprung's Disease Occur?

Hirschsprung's disease is congenital, meaning it develops in the womb. The nerve cells that allow the intestines to relax begin to form in the upper part of the baby's esophagus in the first month of pregnancy, and from there they migrate distally (downwards) to the stomach, small intestines and colon. This is known as “cell migration”. The migration process is completed in the 3rd month of pregnancy. In Hirschsprung's disease, the migration process from top to bottom stops somewhere in the intestine. Ganglion cells are found above the stagnation point, while no cells are found below it. The part of the intestine with cells is called “ganglionic intestinal segment” and the part without cells is called “aganglioynic intestinal segment”.

Which Parts of the Intestine are Anatomically Involved in Hirschsprung's Disease?

Although Hirschsprung's disease is known as a disease of the large intestine, in 70-75% of patients the “aganglionic segment” includes 5-15 cm of intestine just above the anus. In the remaining patients, the aganglionic area may extend further up the colon. Rarely, the entire large intestine may be aganglionic, which we call Total Colonic Aganglionosis. Sometimes the disease can involve the entire digestive tract, including the small intestine and even the stomach and esophagus.

 

How Common is Hirschsprung's Disease?

On average, Hirschsprung's disease occurs in 1 in 5 thousand live births. It is more common in boys than girls (1 girl for every 4 boys). The majority of patients are identified in infancy. However, it is not seen in premature babies (babies born prematurely).

Are There Associated Diseases with Hirschsprung's Disease?

The disease is generally known as an isolated disease of babies born on time. In other words, additional diseases are not common. However, additional anomalies are seen in 10% of isolated patients and 25% of familial patients. Diseases such as colonic and intestinal atresia, cardiovascular anomalies, chromosome anomalies (Down syndrome) can be seen. In addition, Urinary Dysfunction may be seen due to compression of the urinary tract by the enlarged colon.

Is Hirschsprung's Disease a Familial or Genetic Disease?

In recent studies, it has been determined that Hirschsprung's disease also has a genetic basis, two genes defined on the 10th and 13th chromosome are thought to be responsible for the development of this disease. There may also be familial cases.

What are the Clinical Signs of Hirschsprung's Disease?

One of the first signs in newborn babies is a problematic first defecation (failure to pass mecanium feces). Some children are unable to defecate at all and are only relieved by enemas. In 70% of full-term babies, the first defecation (meconium expulsion) occurs within the first 24 hours after birth. 90-95% of babies defecate within the first three days after birth. Hirschsprung's disease should be one of the first problems to be considered in babies who have not passed stool within this period.

In addition, in these babies; Abdominal swelling, vomiting (initially with food, then with bile), inability to defecate, and when they do, they squirt and make foul-smelling poop.

In older children, abdominal distension, occasional constipation and episodes of diarrhea, diarrhea is stinky and excessive. There is growth retardation and the patient appears malnourished.

 

 

How is Hirschsprung's Disease Diagnosed?

The diagnosis is made by history and physical examination, confirmed by imaging methods and tissue sample (rectal biopsy).

Clinical; Abdominal swelling (intestines can be seen through the anterior abdominal wall in infants), developmental delay is also seen in older children. Listening bowel sounds are increased and even metallic resonance can be heard. In rectal touch, it makes foul-smelling and diarrhea-like poop in the explosive style, there is no poop in the ampulla (the last part of the large intestine).

Imaging; Standing X-ray; No gas is seen in the last parts of the intestine, Air Liquid levels are seen.

 

Barium Enema Opaque Graphy; Distal Colon (diseased part) is thin, other parts are wide or normal. In addition, in the Direct Radiograph taken 24 hours later, it is seen that the barium is in the intestines and not discharged.

 

 

Anorectal manometric examination shows that the anal sphincter is not relaxed. Pathologic examination of the piece taken from the rectum shows that there are no nerve cells. In all these examinations, pathologic examination is definitive diagnostic.

 

Which diseases is Hirschsprung's disease associated with?

Colonic Atresia, Meconium Ileus, Premature Birth, Hypothyroidism, Meconium Plag Syndrome, Sepsis, Intracranial hemorrhage, Maternal drug use or addiction, Adrenal hemorrhage, Hypermagnesemia, Hypokalemia.

What happens if Hirschsprung's Disease is not treated?

Enterocolitis is one of the most important problems in these patients because the intestines do not function normally. In enterocolitis, poop accumulates in the intestines, bacteria multiply and these pass into the blood after a certain period of time and cause sepsis. In addition, if not treated in time, the intestine perforates (perforates), both of which can result in death.

Prolonged constipation and abdominal distension with consequent malnutrition and failure to thrive are inevitable.

How is Hirschsprung's disease treated?

Hirschsprung's disease can only be treated surgically. Since the problem is constipation, there is usually a misconception that the symptoms can be relieved if treatment is given for constipation. There is no treatment for Hirschsprung's disease other than surgery.

The main principle of treatment is to remove the aganglionic part, which has no nerve cells, and replace it with the ganglionic part, which has nerve cells, a procedure called pull-through surgery.

The surgical procedure is performed in one, two or three stages, depending on the age of the child, the length of the aganglionic segment and the symptoms. Today, with changing technological possibilities and intensive care conditions, these surgeries are usually performed in one or two stages.

Hirschsprung's Disease

Many methods have been described with the Treatment of the disease. These can be open or laparoscopic. However, the general approach today is Primary Transanal Pull_Through without opening the abdomen.

 

1. The three-phase method: First described and still used today. In the first stage, the part of the large intestine with the ganglion cells in it is temporarily incised into the abdominal wall. This method, called colostomy, aims to rest the enlarged intestinal segment and allow the child to pass stool easily. In the second stage, various methods are used to remove or disable the aganglionic intestine with no cells and replace it with a ganglionic intestine with cells. In the third stage, the colostomy is closed and the treatment is completed.

   

    

2. Two-stage surgeries: In the first stage, the part of the large intestine with the ganglion cells in it is temporarily implanted into the abdominal wall. In the second stage, the aganglionic intestine without ganglion cells is removed or deactivated using different methods and the colostomy end with ganglion cells is pulled down.

   

    

3. Single-stage surgeries: It can be performed as open surgery or closed (laparoscopic). In both methods, during the operation, the intestinal tissue containing ganglion cells is identified by rapid pathological examination (frozen) and the operation is completed by pulling this area down to the anus.

***** All three methods described above are performed by opening the patient's abdomen. The method described hereafter does not require any intervention in the patient's abdomen.

5. Primary Transanal Pull_Through (Primary TEP): It is a new method that has been widely used in recent years. It is performed by entering directly through the anus without opening the abdomen of the patient, pulling the aganglionic intestine out from here and connecting the ganglionic intestine to the anus. Compared to other methods, the fact that the abdomen is not entered and there is no scar on the abdominal wall is considered a superiority, but the long-term results of this method are not yet known.

   

    

   

    

    

What kind of problems are encountered after surgery?

In this disease, even if the surgery is successful, it may take months for the child to gain normal toilet habits. After the surgery, some problems may be encountered from time to time in the early and late periods. For this reason, sometimes a 2nd or even 3rd surgery may be required. The most common problems are Inadequate Resection, Enterocolitis, Chronic Constipation and Poop Incontinence.

Enterocolitis: It occurs in approximately 12-58% of patients. The earlier this condition is seen after surgery, the higher the risk of recurrence. Clinical signs of enterocolitis are diarrhea, bloody stools, fever, abdominal distension, vomiting with or without bile. When these are seen, a pediatric surgeon should be consulted. Treatment Serum is inserted, antibiotics are started and nutrition is stopped, the intestines are rested by enema.

Chronic constipation: In approximately 6-10% of operated patients, chronic constipation may continue as a troublesome problem. In addition, toilet training may take longer as these children do not know how to manage the muscles used during defecation. Over the years, these problems become fewer and fewer. Both oral stool softeners and rectal enemas can be used for many years in these patients. The most common cause of constipation in these patients is anal sphincter achalasia (contracture of the muscle that allows defecation), which benefits from dilatation and sphincterotomy. If it persists despite this, a second operation may be necessary.

Encopresis (fecal incontinence, soiling of the panties): Occurs in about 12% of patients. It is due to chronic constipation and accumulation of feces in the intestines. Particularly in Duhamel surgery, petrified stool fragments called fecalomas may be found in the rectum. Treatment is the same as in chronic constipation.

In addition, voiding dysfunctions, primary infertility, erectile dysfunction, azoospermia and psychosexual problems can be seen in approximately 10% of male patients.

It should never be forgotten that the two main factors in minimizing all these complications are Surgical experience and experienced Pathologist.

*** The information provided here, the content of the website is organized for the purpose of informing the visitor, especially the families. No information should be considered as advice by the visitors and should not lead to any decision or action. Families should definitely have their patient examined by a pediatric surgery specialist, consult with him/her and make a decision by consulting his/her knowledge.