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Hirschsprung's disease. Symptoms and treatment of Hirschsprung's disease. Can flatulence be caused by Hirschsprung's disease?

According to the author, Hirschsprung's disease is a severe congenital disease described for the first time in 1888 by a pediatrician from Denmark. Other names are aganglionosis or HSCR. The anomaly lies in the underdevelopment of part of the large intestine, expressed in the complete absence of the nerve ganglia responsible for peristalsis. Therefore, the main symptom is prolonged constipation.

Prevalence

The incidence of Hirschsprung's disease is 1 case per 5 thousand newborns. It has been established that boys are 4 times more susceptible to the anomaly than girls. In 9% of patients, the pathology is combined with Down syndrome. Usually detected in children under 10 years of age, very rarely Hirschsprung's disease is diagnosed in adults.

What intestinal disorders are possible with the disease?

Aganglionosis most often affects the rectum and the adjacent sections of the sigmoid colon. A rare occurrence is the spread of pathology to the entire large intestine. Histological examination does not reveal nerve nodes (ganglia) in the submucosal and muscular layers (Auerbach and Meissner plexuses) in the intestinal wall.

It is they who are responsible for transmitting impulses to the muscles and causing their wave-like contraction. Hypertrophied inoperative nerve fibers remain. The larger the affected area, the more severe and vivid the clinical course of the disease.

The photo shows an adult with Hirschsprung's disease before and after surgery

Reasons for development

Clusters of nerve cells form in the fetus at 5–12 weeks of pregnancy. These are the future ganglia that will form part of the oral cavity and the muscular wall of the intestine up to the anus.

As a result of process failure for an unknown reason, certain areas of the intestine remain “empty”. The degree of damage is determined by the number of such areas. Modern research considers the “culprit” of the pathology to be a mutation of the responsible genes. Currently, 10 genes and 5 loci have been identified that are associated with the development of aganglionosis.

Changes in 70% of patients form a separate disease, in 18% they are part of various hereditary syndromes, 12% are associated with chromosomal disorders. The type of inheritance has not yet been established.

Isolated disease - confirmed by changes in the RET gene. It found a violation of the amino acid sequence in half of familial cases, in 15% of patients without connection with inheritance (sporadic cases). From 3 to 7% are the genes EDNRB and EDN3.

Of the chromosomal abnormalities associated with Hirschsprung's disease, 90% are trisomy or Down syndrome. An explanation for this association has not yet been received.

Inherited syndromes accompanied by aganglionosis are formed when the formation of the neural crest in the embryo is disrupted. From this formation, nervous, endocrine, cardiac tissues, and the facial skeleton are subsequently formed. Therefore, mutations cause malformations of the heart, bone skeleton, nervous and endocrine systems.

Classification

Depending on the location and extent of the lesion, the following forms of Hirschsprung's disease are distinguished:

Rectal (includes ampullary, supramullary, perineal) - aganglionosis is found in 25% of patients in the rectum.
Rectosigmoid- the most common localization, detected in 70% of patients, can cover only the area adjacent to the rectum or affect the entire sigmoid colon.
Segmental - 1.5% of cases, one or 2 affected segments are formed in the rectosigmoid zone.
Subtotal - 3% of all patients have it, it spreads only to the left half of the large intestine or also affects the right side.
Total - rarely detected, 0.5% in frequency, causes aganglionosis of the entire colon, transition to the small intestine is possible.

Scheme of the main anatomical forms of Hirschsprung's disease

Symptoms and course

Hirschsprung's disease in children manifests itself as severe constipation. Symptoms are detected 24–48 hours after birth by the absence of meconium passage in the newborn baby. All clinical signs are divided into:

in the early days - from the first days after birth, in addition to the absence of stool, an enlarged abdomen and flatulence are observed; if the disease begins at an older age, then the symptoms of Hirschsprung's disease are provoked by the introduction of complementary foods to breastfeeding;
late - rickets-like chest, anemia, delayed weight gain, fecal stones, signs of intoxication, developmental delay.

To achieve bowel movement, the child has to give enemas. The stool is hard. The urge to defecate is reduced to complete absence. Patients may:

pain along the intestines;
increased gas formation, flatulence;
increase in the size of the abdominal cavity;
paradoxical diarrhea;
violation of all types of metabolism;
development of anemia (anemia);
tendency to acute infections;
nausea and vomiting;
sudden rises in temperature.

Signs of Hirschsprung's disease in adults include:

prolonged constipation;
disappearance of the urge to defecate;
increased gas formation, constantly bloated stomach;
intoxication is expressed in fatigue, inability to work or study for a long time, headaches, and insomnia.

Sometimes uneven coloring of the iris is detected.

Stages of the disease

During the disease, it is customary to distinguish three stages. In addition, each is divided into 2 degrees of severity.

Compensation stage

Develops from the first days of a baby’s life. The excretion of feces is disrupted, pediatricians advise giving enemas and checking the nutrition of the nursing mother. When trying to introduce complementary foods, constipation becomes more persistent, and the child develops bloating.

In the first degree, it is possible to compensate for the pathology by changing the type of nutrition, enemas. In the second degree of violations, constipation and flatulence occur at the slightest deviation from the nutritional pattern.

Dyspeptic manifestations are characteristic already of the initial stages of the pathology

Subcompensation stage

Serves as a transition period to decompensation and back. Deterioration of the condition determines the need to use siphon enemas.

Stage of decompensation

It is characterized, in addition to the listed signs, by increasing symptoms of intoxication, vomiting, lack of appetite in the child, slight improvement after enema in the first degree and the absence of any response to conservative therapy, phenomena of impaired development in the second.

In adults, Hirschsprung's disease manifests itself if the affected areas are small in area. The pathology maintains compensation for a long time. A mild course in childhood allows an adult to see a doctor.

Manifestations are stimulated by past diseases of the stomach and intestines, and pathology of the pancreas. Often the first symptoms are vague abdominal pain and flatulence. Attempts to establish bowel movements using laxatives are not always successful; addiction quickly develops.

Ways to identify the problem

A doctor can suspect Hirschsprung's disease after examining the ampulla of the rectum using a sigmoidoscope. The technique is available in any clinic. There is no feces in the ampoule part after preparation for the procedure. Rock-like formations are visible above.

Fibercolonoscopy is performed under short-term anesthesia. The method allows you to examine the inner surface of the large intestine and collect material from suspicious areas of the mucosa for histological examination (biopsy).

A definitive diagnosis is made using a biopsy. Only this study makes it possible to identify the absence of ganglia. The activity of the mediator of parasympathetic fibers, acetylcholinesterase, which is responsible for the transmission of nerve impulses, is determined by special histochemical staining of sections.

An intestinal ultrasound reveals not the cause, but the consequences of the disease (fecal stones, blockages).

Irigoscopy shows uneven narrowing in the lower intestine, overflow and stagnation in the upper part

X-ray diagnostic techniques (fluoroscopy with preliminary administration of a contrast barium mixture or its administration in an enema - irrigoscopy) - make it possible to trace intestinal motility, identify non-contracting areas, impaired patency, lengthening and widening of loops, areas of narrowing, mechanical obstacles due to neoplasms.

Anorectal manometry technique - carried out starting from older children, provides information about the tone of the anorectal muscles, the joint coordination of the work of the sphincters and the intestinal wall. Genetic analysis is a study by a specialized laboratory in zones 10 and 11 of the RET gene; identification of other genotypes is considered uninformative.

What diseases should Hirschsprung's disease be distinguished from?

Differential diagnosis of aganglionosis requires comparison of symptoms and examination findings:

with meconium plug in newborns;
stenosis of the terminal ileum;
types of intestinal obstruction;
megacolon is also an inherited pathology, but it consists of an increase in the size of the large intestine without areas of aganglionosis;
dolichosigmoid - characterized by expansion and lengthening of only the sigmoid intestine, additional loops are formed, pediatricians associate such disorders with the cause of constipation in 40% of children;
habitual constipation due to intestinal atony.

The “complicity” of the absence of ganglia in the large intestine with various endocrine disorders, hypovitaminosis, and tumor formations is checked.

Megacolon can form as a result of long-term Hirschsprung's disease.

How is Hirschsprung's disease treated without surgery?

Treatment of Hirschsprung's disease in children begins with the use of conservative methods. These include:

special nutrition - infants are prescribed intravenous administration of nutritious protein solutions; older children are recommended to include in the daily menu foods that enhance peristalsis (vegetables - boiled beets, cabbage, carrots, fruits - apples, plums, apricots, kefir, buckwheat and oatmeal are required) ;
physical therapy and abdominal massage in a clockwise direction;
cleansing and siphon enemas;
vitamins - prescribed for the purpose of detoxification and strengthening the immune system;
Probiotic preparations help support the composition of the intestinal flora.

Conservative treatment is effective in rare cases with rectal and segmental lesions. The surgical method is the main one, but it involves preparing the patient with the help of therapy.

Use of surgical treatment

Hirschsprung's disease in newborns threatens the development of the child and the addition of infection. In severe cases, surgery is recommended to be performed as early as possible for emergency indications.

When examining the intestine during surgery, the surgeon distinguishes by appearance the area of the intestine that is deprived of innervation: pale, thinned, atonic

The essence of the intervention: resection (removal) of the defective section of the intestine and the formation of an anastomosis between the remaining part and the anus. During the operation, surgeons try to preserve the intestines as much as possible. From the existing methods, an individual one is selected for a particular child, depending on the age, stage and degree of damage, and the probable risk of complications.

Pediatric surgeons have different opinions regarding planned treatment. Some recommend that a baby develop a colostomy until he is one year old - at the first stage, bring the end of the intestine to the skin of the anterior abdominal wall. The excreted feces will be collected in a colostomy bag.

The second stage is recommended to be carried out at an older age. The hole in the abdominal wall is sutured, and the healthy end is connected to the colon and rectum. If the patient’s condition is satisfactory, surgery is postponed until two or four years of age. During this time, conservative therapy is constantly carried out.

A two-stage technique with a colostomy is considered a traumatic intervention, so another opinion proves the need and possibility of combining the stages of treatment. In specialized clinics, a child with Hirschsprung's disease is operated on in one stage and even uses transanal access without opening the abdominal cavity.

Surgeons' observations show that different types of interventions are used. The need for resection of the ileocecal region and ileostomy remains the most common (33.3% of all operations). 20% of patients require a right hemicolectomy (removal of the ascending colon and cecum). Combined resection of the colon and rectum is necessary in 13.4% of patients.

For adult patients, the surgical technique is selected depending on concomitant diseases.

One of the options for connecting the ends of the intestine after resection of the area between them

What is necessary in the postoperative period?

After surgery, patients require a recovery period of up to six months. The duration depends on the severity before the intervention. There is always a high risk of infection in the area of intervention. The doctor judges this by the rise in temperature, vomiting, diarrhea, and bloating.

The correct act of defecation is not formed immediately. In ¼ of the operated children, stool retention or involuntary passage of feces is possible. This course is more often observed in children with other lesions of internal organs.

Gradually the stool returns to normal. Weighing the child shows normalization of weight gain and physical development. Surgeons observe the operated child for at least 1.5 years.

Caring for a child will require regular monitoring of stool; you need to pay attention to its consistency

ask the child about sensations, identify the development of discomfort;
organize dietary meals, follow the feeding regime;
until the reflex to defecation is formed, it is necessary to carry out cleansing enemas at the same time;
Regularly engage in physical therapy with your child.

Possible complications

Without surgical treatment, the child turns into a disabled person due to constant enemas, disturbances of all types of metabolism, and anemia. Diseases such as enterocolitis with inflammation of the small and large intestines are often associated with the pathology and become chronic; intestinal obstruction due to fecal stones.

The accumulation of waste causes progressive intoxication. Possible damage and rupture of the intestinal wall from fecal stones with the development of peritonitis and death.

Forecast

Timely surgical treatment avoids complications and achieves recovery in 96% of patients. If parents refuse surgery in infancy, the mortality rate reaches 80%.

Constipation is a serious problem in bowel function. The appearance in childhood requires identification of the cause and optimal treatment. Postponing surgery and unauthorized use of various folk remedies leads to complications and the need for intervention for health reasons.

Content

Complex congenital disease occurs in both children and adults. The main manifestation of the disease is constant constipation. Hirschsprung's disease makes itself felt from the first days of life and is hereditary; according to statistics, boys suffer from it 4-5 times more often than girls. Treatment of the disease is carried out with the help of surgery, since conservative treatment does not bring the required effectiveness.

What is Hirschsprung's disease?

Hirschsprung's disease is a congenital aganglionosis of the colon (lack of nerve cells in the plexus of Auerbach muscles and submucosal plexus of Meissner), which is characterized by the absence of contraction in the affected area of the intestine, stagnation of feces in the overlying parts of the intestine. There is the following classification of the disease:

The compensated form of the disease is characterized by the fact that constipation is noticed from an early age. Cleansing enemas easily eliminate it over a long period.
The subcompensated form of the disease manifests itself in the fact that over time enemas do not give the desired result. The patient's condition worsens: body weight decreases, the person is very worried about heaviness, as well as painful sensations in the abdomen, and shortness of breath appears. Severe anemia and changes in the metabolic process are noticed.
The decompensated form of the disease is distinguished by the fact that laxatives and cleansing enemas do not lead to absolute emptying of the intestinal tract. There remains a feeling of heaviness, mainly in the lower abdomen, and bloating is also present. Under the influence of various conditions (sharp changes in diet, excessive physical activity), patients develop severe intestinal obstruction. In children, decompensation is diagnosed in subtotal and complete forms of damage.
The acute form of Hirschsprung's disease is expressed in newborns by low intestinal obstruction.

Table: Classification of the disease taking into account the volume of the lesion

Reasons for the development of the disease

The exact cause of the disease has not yet been established. In addition, the symptoms of the disease have certain similarities with other ailments. Patients diagnosed with Hirschsprung's disease have disturbances in the electrical activity of smooth muscle cells, which indicates the presence of a myogenic component in the formation of this disease. The main reasons for the formation of the disease are as follows:

Changes during the transition of neuroblasts to the distal part of the intestine during ontogenesis.
The second reason involves impaired survival, proliferation, or differentiation of migrated neuroblasts.
Genetics. Heredity plays an important role in the development of aganglionosis.
Exposure to environmental factors, chemical and radiation agents, viruses.

Symptoms of aganglionosis in adults

General symptoms are determined by the absence of ganglia (clusters of certain nerve cells that are involved in the motor function of the intestine) and the extent of the lesion in the wall of the colon. The fewer ganglia are missing, the later the disease makes itself known. The main manifestations of aganglionosis include:

Constant constipation since childhood is considered the main symptoms of the disease. Patients constantly use enemas.
There is no urge to empty the rectum.
Rarely, diarrhea (loose stools) occurs.
Antispasmodic pain along the colon.
Flatulence, characterized by increased gas formation in the abdomen.
Bloating.
The presence of “fecal stones,” which look like dense, hardened feces.
Intoxication of the body caused by toxic substances that accumulate in the intestines due to stagnation of contents in the intestines - in severe cases of the disease and a long history.
Partial heterochromia - uneven coloring of various parts of the iris of one eye is observed. This phenomenon is the result of a relative lack of melanin (pigment).

In children

The severity of clinical symptoms can be varied, taking into account the degree of severity (degree of damage to the intestinal tract). Signs of the disease are detected immediately after the baby is born. But sometimes they can appear both in adolescence and adolescence. Hirschsprung's disease in a newborn and older children is manifested by the following symptoms:

newborns do not pass meconium (original feces),
vomiting appears (sometimes with bile),
constipation or diarrhea,
increased gas formation,
predisposition to persistent constipation,
increase in belly size,
retardation in growth and development associated with impaired absorption and the formation of malabsorption syndrome.
Anemia is often observed due to long-term blood loss in feces.
with severe intoxication, aganglionosis is characterized by an enlargement of the large intestine.

Rectal examination reveals an empty rectal ampulla. The vital activity of the sphincter, mainly internal, is increased.
Sigmoidoscopy: an obstacle when passing through the rigid sections of the rectum, a lack of feces there, an acute transition from the narrowed distal part to the enlarged proximal sections of the rectum, the presence of feces or fecal stones in them, despite the scrupulous preparation of the intestine for examination.
Plain x-ray of the abdominal organs: the x-ray reveals swollen, enlarged loops of the colon, rarely detecting fluid levels.
Irrigography: enlarged, long loops of the colon, affecting the entire abdominal cavity; their diameter reaches 10-15 cm and more.
Passage of barium suspension: normal passage of the contrast agent through the upper gastrointestinal tract (small intestine, stomach), pronounced delay in the enlarged sections of the large intestine, from which the contrast is not evacuated for a long period (up to 4-5 days).
Differential diagnosis, including ultrasound of the intestine.
Anorectal manometry involves measuring the pressure of the rectum and colon.
Colonoscopy confirms the findings obtained during the X-ray examination.
Biopsy of the rectal wall according to Swanson: a fragment of the intestinal wall with a volume of 1.0x0.5 cm is cut off in 3-4 cm. A deficiency or lag in the development of the intramural nerve ganglia located in the wall of the colon is determined.
Histochemical testing is based on qualitative determination of the activity of the enzyme tissue acetylcholinesterase. To do this, a biopsy of the superficial rectal mucosa is performed and high activity of acetylcholinesterase of parasympathetic nerve fibers of the mucosa is detected.

Treatment

The main treatment for aganglionosis is surgery. But there are cases when conservative treatment takes place. Rarely does such therapy give the required result, but can be considered as a preparatory stage for surgical treatment. Such therapy includes:

Diet: fruits, vegetables, fermented milk, foods that do not cause gas
Stimulation of peristalsis through massage, healing exercises, and physiotherapeutic methods
The use of cleansing enemas
Intravenous infusions of electrolyte solutions, protein preparations
Taking vitamins.

In cases where conservative treatment methods do not produce the desired effect or the disease is in an advanced stage, the patient is prescribed surgical treatment. After the operation, patients undergo a rehabilitation period, and then begin to live a full life, forgetting about their terrible illness. Surgical treatment involves:

Making a diagnosis of Hirschsprung's disease is an indication for surgical intervention. The main task of timely treatment (both in adults and children) is, in some cases, the complete elimination of the aganglionic region, dilated sections and maintaining a functional part of the colon.
Radical operations of Swanson, Duhamel, Soave were invented for children; in adults, their implementation in a pure version cannot be due to anatomical features or manifested sclerosis in the submucous and muscular membranes of the intestine.
The most adequate modification of the Duhamel operation developed at the Research Institute of Proctology for the treatment of aganglionosis in adults. The essence of the operation: asepticity and safety of the operation; maximum elimination of the aganglionic zone with the formation of a short rectal stump; elimination of the defect of the internal anal sphincter.

Groups of diseases characterized by dilation and thickening of part or all of the colon. Currently, several types of megacolon are distinguished.

Classification of causes of megacolon.

Congenital anomalies:

Anomaly of development of the intramural nervous system (Hirschsprung's disease);

Anorectal defects.

Acquired diseases:

Endocrine disorders (hypothyroidism);

Lesions of the central nervous system;

Effect of medications;

Mechanical causes (strictures and stenoses after injuries, etc.).

Megarectum (inert rectum);

Megadolichocolon, megadolichosigma;

Dolihomegacolon, dolihomegasigma.

Hirschsprung's disease is a congenital disease and most often occurs in children, less often in adults. Hirschsprung's disease is associated with impaired development of the nervous system of the colon, underdevelopment (hypogangliosis) or absence (aganglionosis) of ganglion cells of the intermuscular and submucosal nerve plexuses. The distribution of aganglionosis in the colon ranges from slight in the distal rectum to total involvement of the colon; Based on this feature, the following anatomical forms of Hirschsprung's disease are distinguished: rectal, rectosigmoid, segmental, subtotal, total. Most often, aganglionosis affects the rectosigmoid colon (in 90% of patients). In all cases, the agganglionar zone reaches the internal sphincter of the anal canal. The aganglionic section of the intestine is constantly spasmodicly contracted and does not de-estalt, which leads to the gradual progression of chronic colonic obstruction, hypertrophy and expansion of the overlying sections of the intestine.

Symptoms of Hirschsprung's disease

The leading symptom of Hirschsprung's disease is the absence of independent stool. Almost all patients have defecation disorders from birth or early childhood. The duration of constipation ranges from several days to months. The degree of severity depends on the length of the aganglionic zone. It is not always possible to achieve complete release of the intestines from feces using cleansing enemas. Constant retention of feces in the colon leads to the formation of “fecal stones,” which are often palpated through the anterior abdominal wall. Some patients, due to constipation, sometimes develop diarrhea that lasts for several days. These paradoxical diarrhea are caused by inflammatory processes in the colon and increasing dysbiosis. A constant symptom is flatulence, which, like constipation, manifests itself from early childhood. As a result of prolonged retention of feces, fermentation occurs with the formation of a large amount of gases. The abdomen takes on a “frog”, barrel-shaped shape, there is an increase in the volume of the abdomen, high intra-abdominal pressure, difficulty in lung excursion, and a decrease in their respiratory surface.

Most patients report abdominal pain that increases with increasing duration of constipation. With prolonged retention of stool, nausea and sometimes vomiting appear. After bowel movement, vomiting immediately stops. In 20% of patients, continuous slow progression of the disease occurs. Constipation, which occurs from birth, becomes more pronounced, but its severity at first is not so significant as to determine the need for surgical treatment.

In 50-55% of patients, persistent constipation that appeared in childhood (virtually no stool) becomes less pronounced with age. Failure of compensation often occurs at the age of 15-18 years and is manifested by the development of acute intestinal obstruction in the form of coprostasis or volvulus.

In some cases, the disease is characterized by a long latent period, during which periodically appearing constipation is noted, which does not attract the attention of either patients or their parents. Permanent dysfunction of the colon in such patients is observed from adolescence.

Diagnosis of Hirschsprung's disease

It is based on medical history, clinical picture of the disease, X-ray data, anorectal balloon myography and the results of transanal rectal biopsy.

Hirschsprung's disease is characterized by the onset of constipation from birth or childhood. On examination, one notices moderate hypotrophy, a distended abdomen, a deployed rib angle, and sometimes intestinal peristalsis is visible to the eye. On digital examination, the rectal ampulla is empty, the sphincter tone is increased. A digital examination is mandatory, as it allows us to exclude a pelvic tumor, the presence or absence of any strictures, or scars. During sigmoidoscopy, as a rule, there is difficulty in passing the tube of the device through the distal parts of the rectum, increased folding of the mucosa and the absence of contents in the ampoule even without special preparation of the intestine. A very characteristic transition is from the somewhat narrowed distal part of the rectum to the sharply expanded proximal parts, in which there are fecal masses or “fecal stones”. An X-ray examination reveals a narrowing in the rectum or rectosigmoid region and an expansion of the overlying sections of the colon. Unlike children, in most adult patients, the rectum has a normal diameter on radiographs, and only its sharp difference from the overlying dilated sections makes one suspect Hirschsprung's disease. The aganglionic rectum loses its characteristic ampullary shape and acquires a cylindrical shape. The study of the recto-anal reflex is of great differential diagnostic importance. In terms of diagnostic accuracy in adults, this method can only compete with a biopsy of the rectal wall. A rubber balloon is inserted into the rectum above the anal canal, and electrodes are strengthened in the canal, in the projection of the external and internal sphincters. When the balloon is inflated, both sphincters normally relax, but with rectal aganglionosis, the internal sphincter does not relax. In doubtful cases, transanal rectal biopsy according to Swenson is used to differentiate Hirschsprung's disease from idiopathic megacolon. The biopsy is performed in the operating room under general anesthesia. With the patient in the supine position after devulsion of the anus, a section of 1-0.5 cm is excised 3-4 cm above the dentate line, and it is necessary that all layers of the intestinal wall are included in the sample. The wound is sutured in two layers. The absence of ganglia of the intermuscular plexus in the preparation or their significant reduction indicates in favor of Hirschsprung's disease.

Treatment of Hirschsprung's disease

The diagnosis of Hirschsprung's disease is practically an indication for it; it is not possible to improve the function of the aganglionic zone and the dilated, sclerotic overlying parts of the colon with the available conservative means.

Removal of the aganglionic zone is possible using various methods, for example, anterior resection of the rectum, abdominal-anal extirpation. However, after anterior resection, a large aganglionic zone (8-9 cm) remains, which subsequently becomes the cause of relapse of megacolons. Abdominal-anal resection with reduction of functioning sections of the colon is a more radical operation. But its long-term results are often unsatisfactory due to the large number of complications (retraction of the lowered intestine, dysfunction of the anal sphincter, etc.). Therefore, among the methods of surgical treatment of Hirschsprung's disease in children there are other operations: Svenson, Soave, Duhamel. In adults, the use of pediatric surgery methods is difficult due to changes in the colon and anatomical features.

The best treatment for Hirschsprung's disease in adults is Duhamel's operation as modified by the Research Institute of Proctology, which consists of leaving a short (no more than 8 cm) rectal stump, forming an anastomosis over the internal sphincter of the rectum and two-stage formation of a colorectal anastomosis with removal of excess colon at the first stage intestines through a “window” in the rectal stump. The second stage of surgery is performed after 12-14 days. The excess colon is gradually excised along the line of fusion of the walls of the rectum and colon, restoring the continuity of the mucous membrane with separate catgut sutures.

In case of total damage and severe decompensation of Hirschsprung's disease, the only possible option is subtotal resection of the colon with the formation of an ileo- or ascendorectal anastomosis. Leaving a short aganglionic zone serves as a retention factor for intestinal contents.

The article was prepared and edited by: surgeon

The name “Hirschsprung's disease” is a congenital hereditary anomaly of the large intestine associated with impaired innervation of this part of the intestine. The disease has been known for more than a hundred years: it was first described by Danish pediatrician Harald Hirschsprung, calling the pathology congenital gigantism of the colon. And in modern medicine, the second name for the pathology is congenital idiopathic megacolon.

The prevalence of this pathology is 1 case per 5000 children born. In boys, the anomaly occurs 4 times more often. The disease usually manifests itself already in the neonatal period. But in some children, clinical manifestations appear later (up to 10 years).

What is the essence of the disease

Normally, in the submucosal and muscular layers of the intestinal wall there are special plexuses of nerve cells (ganglia) responsible for moving the intestinal contents towards the anus. With Hirschsprung's disease, in some areas of the large intestine there is an absence of such ganglia or an insufficient number of them.

As a result of such an anomaly, intestinal motility is disrupted, feces are not excreted from the body, accumulate in the intestines, permanent symptoms appear, and severe intoxication of the child’s body develops. The length and height of the anomalous area may vary. The greater the extent and the higher the location of the area with impaired innervation, the more pronounced the manifestations of the disease in the newborn will be.

Intestinal contents accumulate above the affected area and cause significant expansion. At the same time, in the section of the intestine located below the abnormal area, peristalsis increases, which causes hypertrophy (thickening) of the intestinal wall.

Reasons

The cause of Hirschsprung's disease is likely a gene mutation.

The exact cause of the pathology is unknown. It has been established that Hirschsprung's disease is a hereditary disease. If someone in the family had it, then the risk of developing an anomaly in the child increases significantly.

It is believed that the cause of the disease may be a mutation of genes in the DNA responsible for the correct formation of the innervation of the digestive system. However, the causes of this mutation have not been established.

The formation of nerve ganglia in the digestive tract occurs between 5 and 12 weeks of pregnancy. Under the influence of some unknown factors, the formation of the innervation system is interrupted. Moreover, the abnormal area can be several centimeters in length, and in severe cases, spread to the entire colon.

Symptoms

This congenital pathology can appear immediately after the birth of the baby, when the original stool (meconium) does not pass in the first day. At the same time, the child cries and pulls his legs towards his tummy. That is why the first stool of a newborn in the maternity hospital is so carefully monitored.

Manifestations of the disease depend on the length of the abnormal segment of the intestine and the age of the child. In the first half of life, the symptoms of megacolon may not be so noticeable if the baby is on. Fecal masses of semi-liquid consistency can freely pass through the affected area.

With a significant extent of the abnormal zone, even at this age constipation, bloating, and restlessness of the child are noted. Bowel movement becomes problematic after. The stool becomes thick and dense.

In children in the first year of life, the symptoms of Hirschsprung's disease are as follows:

constipation becomes regular, the child may not recover without an enema for 5-7 days;
appetite worsens;
bloating causes colic and anxiety;
the stool will acquire an unpleasant odor;
feces are released in the form of a ribbon;
regurgitation becomes more frequent and more abundant;
defecation does not lead to complete bowel movement.

At the same time, a child. If treatment is not carried out, intoxication will increase, and life-threatening complications may develop.

Older children also suffer from constipation, in which conservative measures are not always effective. From dense feces in the lower intestines, fecal stones can form, which can also lead to dangerous complications.

A constant symptom of the disease is bloating (flatulence). The large intestine becomes swollen with accumulated gases, which is externally manifested in a change in the shape of the abdomen - this sign is called a “frog belly”.

The navel is flattened or protrudes outward; upon examination, the stomach appears asymmetrical. When palpating, the doctor may feel the intestine distended with feces or gases. Depending on the consistency of the contents, the intestine will be dense, like a stone, or soft. After examining the abdomen, peristalsis (wave-like contractions of the intestinal walls) increases.

The older the child becomes, the more pronounced the intoxication of the body. Anemia, protein deficiency, and energy deficiency develop. A crowded and distended intestine makes it difficult for the diaphragm to move, leading to breathing problems. Deterioration of pulmonary ventilation causes recurrent pneumonia or bronchitis.

The consequence of severe and prolonged intoxication is the appearance of vomiting and diarrhea in an advanced stage of the disease. If vomiting is accompanied by abdominal pain, then this is a serious symptom characteristic of severe complications - intestinal perforation and developing peritonitis (inflammation of the peritoneum) or intestinal obstruction. Both of these complications are life-threatening if not treated immediately.

Paradoxical diarrhea can appear even in a newborn as a result of the rapid development or inflammatory process of the mucous membrane with the formation of ulcers. Diarrhea can also be fatal without timely help.

Most often, the symptoms and severity of the condition directly depend on the extent of the abnormal section of the intestine. In some cases, even with a small area of pathology, intoxication and metabolic disorders can develop, causing a serious condition for the child. Sometimes this depends on the compensatory capabilities of the body and the correctness of the treatment measures taken.

Classification

Depending on the location of the abnormal part of the intestine, the following forms of Hirschsprung's disease are distinguished:

Rectal: innervation is disrupted in a small area of the rectum. Occurs in 25% of cases. The child has a tendency to constipation.
Rectosigmoid: the anomaly concerns the rectum and the sigmoid region. This form is the most common (70%). It is characterized by persistent constipation, bloating, which somewhat resembles that of a frog, and abdominal pain.
Segmental: observed in 2.5% of cases, characterized by alternation of affected and healthy areas of the large intestine. Manifestations may vary: some children experience periodic constipation, and some cannot recover on their own.
Subtotal (3%): half of the intestine is completely affected. The child exhibits all clinical manifestations of the disease. This is a severe lesion in which conservative measures are ineffective; only surgical treatment is necessary.
Total: The entire colon is abnormal. Occurs in rare cases (0.5%). It manifests itself as severe bloating and severe constipation immediately after the birth of the baby.

The following stages of the disease are distinguished:

Compensatory, in which constipation appears from birth and intensifies after the introduction of complementary foods. Bowel emptying is achieved using cleansing enemas.
Subcompensated, in which enemas are less effective. The child is bothered by severe abdominal pain, signs of intoxication appear, and shortness of breath may appear. Due to metabolic disorders, the baby is behind in weight.
Decompensated, when all manifestations are maximally expressed. Enemas and laxatives are ineffective. In the absence of timely surgical treatment, it leads to intestinal obstruction.

Classification based on the severity of clinical manifestations identifies the following stages of the disease:

Early with characteristic symptoms: constant constipation, bloating and an increase in its size.
Late, in which secondary changes occur: anemia, protein deficiency, formation of fecal stones, chest deformation.
Complicated, which is characterized by the appearance of paradoxical diarrhea and vomiting, severe abdominal pain. The risk of intestinal obstruction is very high.

Complications

The lack of adequate treatment for Hirschsprung's disease is fraught with the development of the following complications:

acute enterocolitis (inflammation of the intestinal wall);
with paradoxical diarrhea and vomiting, dehydration of the baby’s body can be life-threatening;
the formation of fecal stones from compacted feces: they cannot pass out on their own and can cause damage to the intestinal wall (perforation due to bedsores) with the development of peritonitis;
intoxication of the body: toxic substances are not excreted in feces, but are absorbed into the blood, spread through the bloodstream and can damage various organs;
anemia;
metabolic disorders;
dysbacteriosis;
disability of the child due to severe complications.

Diagnostics

If constipation and bloating are detected, a pediatrician and pediatric gastroenterologist will clarify the diagnosis. First, the doctor interviews the parents, clarifies the details of the complaints and the presence of a similar pathology in relatives. Then the child is examined.

To confirm the diagnosis, additional research methods are prescribed:

Rectal digital examination reveals increased tone of the anal sphincter and the absence of feces in the rectum, despite prolonged constipation.
Sigmoidoscopy is an examination of the rectal mucosa using a special device (rectoscope). Allows you to detect changes in the mucosa and narrowing of the lumen.
X-ray of the colon is one of the main methods confirming the diagnosis. It is carried out using contrast (barium suspension), which is administered in an enema. The resulting image makes it possible to see the changed relief of the mucous membrane and narrowed areas of the lumen of the colon. The areas of expansion of the large intestine are also clearly defined.
Colonoscopy is a visual examination of the inside of the large intestine along its entire length using an endoscope (a special device with a flexible hose and fiber optics). Using this study, X-ray diagnostic data are confirmed. In addition, special instruments are used to take material (biopsy) for histological examination, which reveals the absence or underdevelopment of the nerve ganglia.
Anorectal manometry - measuring the tone of the internal sphincter and pressure in the colon. A characteristic symptom of megacolon will be weakening or failure of the sphincter as a result of dilation of the rectum.
Ultrasound reveals dilation of intestinal loops, swollen with accumulated gases and feces.

Clinical tests of blood, stool, and stool culture for dysbacteriosis are also carried out. If necessary, a biochemical blood test is prescribed.

Treatment

One of the components of conservative treatment is a diet with an emphasis on foods that have a laxative effect.

In rare cases (with rectal and segmental forms of the disease), it is possible to do without surgical intervention, using only conservative treatment.

The goal of conservative therapy is regular bowel cleansing.

Conservative treatment includes:

The diet recommended by the doctor. It includes products that have a laxative effect:

vegetables (cabbage);
fruits (plums, apricots, apples);
fermented milk products (fermented baked milk);
(buckwheat, oatmeal).

Exercise therapy (specially selected exercises that stimulate peristalsis).
Clockwise abdominal massage should be performed daily to activate intestinal motility.
Cleansing and siphon enemas. Some parents believe that it is harmful to conduct regular enemas to avoid becoming addicted to them. However, the effects of toxic substances on the body are much more harmful. With Hirschsprung's disease, even with periodic independent bowel movements, complete cleansing of the intestines does not occur. That is why the child should regularly undergo siphon enemas.
According to indications (in case of significant malnutrition), infusions of protein and electrolyte solutions into a vein are prescribed.
Vitamin therapy is used as a general tonic and to reduce intoxication.
Probiotics improve the functional abilities of the intestines and normalize the composition of the intestinal microflora.

Conservative treatment of Hirschsprung's disease is ineffective in most cases. It is often prescribed as preparatory therapy before surgery. Surgery is the only method to rid a child of a birth defect.

Surgical treatment can be planned or emergency (if a severe complication develops). Even newborns are operated on for emergency reasons.

There are different opinions regarding the timing of elective surgery and approaches to the methodology for its implementation. Some surgeons believe that a child under one year of age undergoes only the first stage of the operation - a colostomy, when the affected section of the intestine is removed and the end of a healthy section of the colon is removed and sutured onto the anterior abdominal wall. In this case, feces are released into the colostomy bag.

The second stage of the operation is performed at an older age, when the hole in the abdominal wall is closed and the healthy end of the colon is connected to the rectum. According to other surgeons, these two stages of the operation should be performed simultaneously.

Most experts consider it possible to undertake conservative treatment methods and operate on a child only at 12-18 months. If possible, the operation is postponed until the child reaches 2-4 years of age.

Practice proves that conservative treatment should be carried out as preparation for surgery, and nothing more. On the one hand, infants have a hard time with such a complex manipulation with the risk of complications and a long rehabilitation period. On the other hand, if you delay the operation too much, quite serious secondary changes in the body may develop. That is why the surgeon must determine the optimal time for intervention in each specific case.

In the postoperative period, there is a huge risk of infection in the surgical area, as evidenced by an increase in temperature, vomiting or diarrhea, and bloating.

The rehabilitation period is long and can last up to 3 or even 6 months. During the recovery period, approximately 25% of operated children may experience stool retention or involuntary bowel movements. Such phenomena are more often observed in children with secondary symptoms and damage to internal organs. In such cases, the doctor prescribes additional restorative treatment.

Gradually, the child’s stool returns to normal and weight gain is noted. Physical development is approaching normal. After the operation, the doctor observes the child for at least one and a half years. The effectiveness of surgical treatment (complete cure of the disease) reaches 96%.

During the rehabilitation period, parents should:

control stool, its consistency and the presence of discomfort;
provide the recommended balanced diet and its regimen depending on the age of the child;
do cleansing enemas at the same time in order to develop a reflex habit in the child of emptying the intestines;
engage in exercise therapy with your child.

The doctor selects an individual rehabilitation program for each patient.

Summary for parents

Hirschsprung's disease is a congenital developmental defect, so special measures to prevent this pathology have not been developed. If you identify signs characteristic of this disease, you should consult a doctor for timely diagnosis and radical surgical treatment. This will make it possible to prevent secondary changes in the body, completely restore the baby’s health and ensure its normal development.

Medical animation on the topic “Hirschsprung’s disease” (English):

Channel One, program “Live Healthy!” with Elena Malysheva, in the “About Medicine” section, a conversation about Hirschsprung’s disease (see from 34:20 min.):

Hirschsprung's disease is one of the rare diseases that is congenital in nature.

This pathological process was first learned about at the end of the nineteenth century. Disease is usually understood as a significant change in the colon.

Nowadays, the disease has received a name.

Concept of disease

Few people know what Hirschsprung's disease is. This disease was first described at the end of the nineteenth century by pediatrician Harald Hirschsprung.

It is believed that this disease has a genetic predisposition. That is, if at least someone in the family suffered from this disease, it will definitely manifest itself in the newborn. But in practice, the disease occurs in one child out of five thousand.

Hirschsprung's disease is a congenital abnormal process that adversely affects the colon. The pathological phenomenon is characterized by impaired innervation of the intestinal zone, which leads to chronic constipation.

On the walls of a healthy intestine, in the muscular and submucosal structures there are nerve plexuses that are responsible for the ability of the organ to push the contents in the right direction. When a child has this disease, some areas of the intestine are deprived of this ability.

Against this background, a violation of motor function occurs. Regular constipation leads to severe poisoning of the body.

Hirschsprung's disease in newborns can have different symptoms. It all depends on the height of the location of the site of aganglionosis. It is believed that the more the organ is affected, the more severe the symptoms will be.

Improperly formed distal zones cause impaired motor function in the lower sections. The affected area becomes an obstacle to the movement of food.

Each time, all the contents begin to compact above the affected area. This process leads to expansion of other parts of the intestine.

Reasons

If a patient is suspected of having Hirschsprung's disease, only an experienced doctor can tell what it is. The causes of the pathological process have not yet been studied.

It is known that during the gestation stage from 5 to 12 weeks, the active formation of nerve plexuses occurs, which are responsible for the timely functionality of the digestive system.

But in some situations, this stage is interrupted at the moment when the colon begins to form.

Also, experts have a different version of what is happening. Perhaps the cause is a mutation at the DNA level. The disease is hereditary. Therefore, it most often occurs in those whose relatives have already suffered from this disease.

Often the pathology is detected in children aged 10 years. At the same time, males suffer from the disease four times more often.

Symptoms

The severity of Hirschsprung's disease syndrome depends on the degree of damage to the colon.

The first symptoms can make themselves felt already in the first days of a child’s life. If the baby does not have bowel movements on the first day, then this is already considered a cause for concern.

Common symptoms include:

constant constipation;
bloated stomach;
flatulence.

With age, the number of symptoms increases.

Signs begin to appear in:

severe constipation;
lack of appetite, refusal to eat food;
insufficient weight gain;
flatulence;
unpleasant odor of feces;
changing the shape of bowel movements. They resemble a thin film;
lack of complete emptying of the intestinal tract.

When the baby is breastfed, the symptoms are not as noticeable. At this stage, the stool is liquefied. Feces pass unhindered through the intestinal tract. The first manifestations are observed from the moment when the baby is introduced to complementary foods and the food becomes thicker.

Feces become dense, constipation occurs more often, intestinal obstruction increases, and intoxication becomes stronger.

Older children suffer from prolonged constipation. There may be no stool for up to seven days. If you pay attention to the pathology in a timely manner, then everything is much easier to bear.

Another main symptom is flatulence. He begins to torment the baby from the first days of life. Gases that are in the digestive tract stretch the organ. Because of this, the shape of the abdomen changes.

In appearance it looks unusual. The navel is turned outward or flattened completely. Due to the movement of the intestines, the abdomen takes on an asymmetrical shape.

If parents do not consult a doctor on time, then signs of intoxication occur. The baby becomes lethargic and capricious. The skin turns pale. The temperature may rise.

If left untreated, children develop anemia and protein-energy deficiency.

It is much worse when Hirschsprung's disease manifests itself with vomiting and diarrhea, observed already in the last stages - this indicates complete intestinal obstruction. Vomiting is accompanied by severe pain. Diarrhea can appear from the first days of a baby’s life and can be fatal.

Stages of the pathological process

Hirschsprung's disease is usually divided into several stages.

First stage

In practice it is called compressed.

The disease is accompanied by constipation from the first days of life. With the introduction of complementary foods, the absence of feces becomes longer and longer.

Second stage

This stage is called subcompressed.

If at the first stage cleansing enemas helped eliminate constipation, then in the future this cleansing technique is powerless.

The baby begins to lose weight. He suffers from excruciating pain in the abdominal area. Metabolic processes are disrupted. Shortness of breath appears.

Third stage

The decompressed stage is characterized by worsening symptoms.

The pain syndrome is constantly present. There is no result when using laxatives and enemas. Against this background, intestinal obstruction and intoxication of the body develop.

The first stage is considered the most harmless of all. By selecting the right treatment, adverse consequences can be avoided.

The disease also has a classification, which includes:

rectal shape. Occurs in 25 percent of children;
rectosigmoid shape. Diagnosed in 70 percent of children;
segmental form. Found in 2 percent of patients;
subtotal form with damage to the colon. Occurs in 3 percent;
total form. The entire large intestine is affected. It is diagnosed in 0.5 percent of children and is fatal.

Whatever type of disease is observed, an urgent examination by a doctor is required.

Adverse consequences

If parents do not go to the doctor for a long time, then adverse consequences arise.

Complications of Hirschsprung's disease include:

enterocolitis;
development of inflammatory processes in the intestinal tract;
acute inflammatory infiltration;
abscesses;
manifestations of the mucous membrane;
perforation of the intestinal tract;
peritonitis.

This condition is very dangerous for a child. If unfavorable processes develop, it is necessary to urgently hospitalize the baby and perform surgical treatment.

Diagnosis

When the first signs appear, parents should immediately consult a doctor.

First, the doctor listens to complaints and collects anamnesis on the child. Then the patient is examined.

If there is a suspicion of pathology, an examination is prescribed, which includes:

rectal examination. Allows you to determine the tone of the sphincter;
X-ray studies. During diagnosis, images are taken. To fully visualize the intestinal canal, a contrast agent is used. Using this technique, it is possible to find narrowed and expanded areas;
And . Allows you to examine the organ from the inside and assess the condition of the mucous membrane;
ultrasound diagnostics of the abdominal cavity.

In addition, blood and stool tests are prescribed. In some cases, material is collected and histology is performed.

Therapeutic measures

If a diagnosis of Hirschsprung's disease is made, treatment is prescribed depending on the stage of the disease and the patient's condition.

Drug therapy is not always effective. It involves performing enemas and taking laxatives. Often this method is used as preparatory measures for surgery.

The most effective method is considered to be the operational method.

Surgical intervention will depend on the damage to the large intestine:

at the first stage of the disease, it is possible to delay surgery with a temporary colostomy;
in severe cases, emergency surgery is performed.

Only the doctor decides at what age to perform surgical procedures. Experts have different opinions on this matter. Some believe that the procedure should be carried out as soon as possible and preferably after birth. The second opinion is to perform manipulations after a year and only when it is not possible to empty the intestinal tract. The third group says that conservative treatment should take a long time.

Regarding surgical intervention, only the doctor can decide. He assesses the child's condition. It is worth noting that it is also better not to delay this process, since the threat of secondary diseases increases significantly.