Hirschsprung's disease in children is not so frequent, but very serious, and therefore the confusion of parents who hear such a diagnosis is quite understandable. The name of the disease is not even heard by most moms and dads, and therefore there are more questions about this disease than answers.
What it is?
Hirschsprung's disease gets its name from the surname of pediatrician Harald Hirschsprung, who first described the illness after the death of two of his young patients from severe chronic constipation. Also, this disease has other names - agangliosis of the colon or congenital megacolon.
It should be noted that the disease is a congenital anomaly in the development of the large intestine, in which defecation is extremely difficult due to the fact that innervation is disturbed (nerve connections or nerve structure) in one of the sections of the large intestine, more often the lower ones. As a result of the fact that the nervous activity in this department is disturbed, a decrease in peristalsis develops up to its complete absence, and in the parts of the intestine located above the affected zone, deposition of a large amount of feces.
According to the WHO, Hirschsprung's disease in childhood occurs in one in 5,000 newborns. There are other data suggesting that the disease occurs with a frequency of 1: 2000 newborns. Boys are more susceptible to congenital disease - for one sick girl there are four small representatives of the stronger sex.
In 9 out of 10 children, according to statistics, congenital megacolon is found before the age of 10 years. In almost every third case, an anomaly of colon development is accompanied by some other malformations, and every tenth child with such an anomaly has Down syndrome.
Why it happens?
The defect is always congenital, but the reasons that cause it are still the subject of study by doctors and scientists. Today, experts tend to believe that the formation of an anomaly is influenced by several factors at once, the main of which is damage to several genes at once, which, in fact, are responsible for how correctly and on time the neural structures of the colon walls will be formed. In genetics, everything is very complicated, and it can be difficult for parents to understand why they, healthy, had a sick baby. But let's try to explain.
Hereditary factor. Approximately every fifth child with a congenital megacolon has a family genetic influence. At conception, a mutation process is formed in the RET, GDNF, EDN3, ENDRB genes. At 7-12 weeks of gestation, when the fetus completes the formation of nerve cells in the walls of internal organs, the affected genes listed cannot ensure the transition of germline neuroblast cells (from which neurons are formed) to the desired place. In about 11-12% of cases, genetics find aberrations (unexplained errors) in the chromosomes. And in every fifth child with Hirschsprung's disease, the anomaly is closely related to some hereditary syndrome.
Anomalies at the level of intrauterine development. They arise in children who, at the time of conception, had healthy genes listed above, but the problem and error arose in the process of embryogenesis. The reason could be a viral infection, influenza, suffered by the mother at an early stage of pregnancy, the effect of high doses of radioactive radiation on the body of a pregnant woman during this period, a woman's contact in the early stages with substances that can cause genetic mutations in the fetus. At the same time, the distribution of germ cells-neuroblasts was disrupted.
Doctors followed the statistics and confidently say that the likelihood of Hirschsprung's disease in children increases if a pregnant woman suffers from various obstetric pathologies, gynecological diseases, as well as gestosis, diabetes mellitus, hypertension, heart failure or some heart diseases.
It is the period from 7 to 12 weeks of pregnancy that is considered critical in terms of the likelihood of a failure in the formation of the neural structures of the walls of the large intestine of the fetus. It was during this period that the so-called Meissner nerve plexuses are laid, which are found in healthy people in the layer of the large intestine under the mucous membrane. During the same period, the formation of nodes and plexuses of nerves called Auenbach's plexus, located in the muscular layer of the intestine, takes place.
Since embryonic neuroblasts do not arrive at the right place on time or do not arrive in sufficient quantities, the nerve endings there are formed with errors - either their individual fragments, or an undeveloped weak and incorrect network. This area, devoid of normal nerve supply, cannot cope with the main task of the large intestine - the removal of the contents outside. Therefore, constant constipation occurs, and then the higher intestinal sections begin to expand.
Classification and types of pathology
Doctors will talk about the type and type of disease in a newborn, baby or older child based on the anatomical and clinical features of the anomaly in a particular child.
The main criterion is the length of the affected intestinal area.
The most common case is the rectosigmoidal form. It is found in 65-75% of patients. In every fourth case, the rectal form of the disease occurs. Only in 3% of cases a subtotal form is found, in 1.5% of cases the lesion is segmental in nature. The total form, in which the entire large intestine is affected and deprived of nervous support, occurs in 0.5% of cases.
As already mentioned, the upper sections expand due to the constant accumulation of fecal masses, and depending on the exact place of pathological expansion, such designations of the expansion site as megarectum, megasigma, subototal and total megacolon, etc., are added to the specific diagnosis.
The combination of symptoms and manifestations of developmental abnormalities allows doctors to identify several types of ailment.
- Typical child - occurs in 90-95% of cases. It develops quickly, is accompanied by very frequent constipation, when, without outside help, the child is practically unable to empty the intestines, the first symptoms of intestinal obstruction quickly appear.
- Lingering child - first appears after infancy. Usually this is due to the fact that a small area of the intestine is affected, and therefore the clinical picture develops slowly, prolonged.
- Hidden - for the first time, painful constipation becomes a problem closer to the adolescent period of the child's development. Intestinal obstruction is rapidly increasing.
Compensated, subcompensated and decompensated forms of the disease are also distinguished. If the body manages to partially compensate for the problem, over the years the child can empty itself, but gradually he will become prone to constipation, the duration of which can range from 3 days to a week. With subcompensated Hirschsprung's disease, the child is capable of bowel movement, but only with the use of an enema or laxative. Without them, constipation.
In a state of decompensation, the child does not poop himself and does not even feel the urge to this natural cleansing process. The thickening of the stool in the intestines becomes stone-like, and laxatives and enemas do not help.
Symptoms and Signs
It depends on how much the large intestine is affected when it will be possible to determine the first symptoms of pathology in a child. In the overwhelming majority of cases, the anomaly is determined after birth, but a latent course with minor symptoms is also possible, which will make it possible to diagnose Hirschsprung's disease only at school, adolescence or later.
The innervation of the large intestine is manifested chronic constipation. If the child has the urge to empty the intestines, but cannot do it, we are not talking about a congenital anomaly. With a congenital megacolon the child usually does not feel the urge to empty the bowels. Almost half of children with this diagnosis suffer from bloating and abdominal pain associated with the accumulation of feces and the expansion of the upper intestines.
The long presence of an anomaly forms a visible asymmetry of the abdomen. Blue veins of veins are visible on the abdomen with the naked eye. The long course of the disease gives rise to anemia in the child, his skin is pale, he suffers from frequent dizziness, and gets tired quickly. Due to the accumulation of feces, there may be symptoms of intoxication, manifested by headache, nausea, and sometimes vomiting.
Different stages have different characteristics.
- Compensated - constipation in newborns, which becomes worse with the introduction of complementary foods. If parents monitor the frequency of bowel movements, they administer enemas on time, then the general condition of the child is not disturbed. In the second degree, the child's appetite begins to suffer.
- Subcompensated - constipation becomes more frequent, without an enema it becomes almost impossible to empty the intestines, but with adequate treatment, the pathology has every chance to go into a compensated form. The symptoms of Hirschsprung's disease increase slowly and gradually.
- Decompensated - Symptoms build up very quickly. At the first degree, an acute course is noticeable - the child has impaired discharge of gases, there is no bowel movement, the abdomen is swollen like a "frog". In the second degree, the disease becomes chronic.
An interesting detail: often a congenital megacolon is found in children who have heterochromia from birth - a different color of the iris of the organs of vision.
What is the danger?
Agangliosis of the large intestine is dangerous because the sick baby's digestive processes are disturbed, nutrients are absorbed less than necessary, and since all this occurs against the background of a decrease in appetite, it is possible that the child will become hypotrophic or begin to suffer from extreme exhaustion - cachexia.
Children with such a congenital malformation grow slowly, lag behind their peers in height and weight, and often suffer from dysbiosis, inflammation of the intestinal mucous membranes.
The most dangerous complication is the development of intestinal obstruction, as well as the formation of pressure ulcers of the intestinal walls with fecal stones in violation of the integrity of the intestine itself. It is dangerous with peritonitis and sepsis.
Diagnostics
The doctor can assume that the child has intestinal agangliosis on the basis of complaints from parents of frequent bloating, difficulties with defecation, and constipation. When a healthcare professional touches the abdomen with his fingers, two tests are performed - the "tumor" test and the "clay symptoms" test. In the first case, the doctor discovers seals on a digital examination of the abdomen, and in the second, signs of compression of the colon. In this case, the child is sent for examination, which is designed to confirm or refute the diagnosis. It includes:
- X-ray of the large intestine filled with contrast agent;
- endoscopy of the rectum and sigmoid colon;
- cytomorphology according to Swenson - histological examination of tissue samples of the rectum and colon;
- gauge tests.
In the analysis of the blood of a child with Hirschsprung's disease, elevated leukocytes, ESR, and toxic changes in neutrophils are usually found.
Examination and diagnosis are carried out proctologists, surgeons, infectious disease specialists, pediatricians.
Treatment and prognosis
Surgery is usually recommended for a child with this diagnosis. And parents should understand that if doctors advise to do this, it is better not to refuse, because Hirschsprung's disease cannot be treated conservatively with folk methods. During the operation, it will be possible to restore intestinal patency, as well as remove the affected area, which creates so many difficulties in the work of the entire intestine.
There are two types of operations - one-stage and two-stage. To understand which one to recommend, the doctor takes into account the child's age, the degree of intestinal damage, the length of the innervated area.
A one-stage operation is usually performed with compensated disease and minor intestinal damage. Simply remove the affected area, form an anastomosis. This method is less traumatic, judging by the reviews of doctors and patients.
A two-stage operation is performed for children with an ailment at the stage of subcompensation and decompensation, with large affected areas of the large intestine. The first stage involves removing the affected area and creating a temporary colostomy. At the second stage, an anastomosis is formed from it.
An emergency operation for a child can be performed in case of intestinal obstruction, bedsores of the walls, violation of the integrity of the intestinal walls.
It's pretty hard to predict something after all, it all depends on how early the child was diagnosed with a congenital anomaly of development, what type it belongs to, whether all clinical recommendations were followed on time. With an early operation, the forecasts are favorable. If the baby is left untreated, the probability of death of the baby is estimated at 80%.
If the operation is abandoned and the subsequent obstruction forms, it is possible that after the operation the child will receive a disability, but even here everything is individual and depends on the volume of the surgical intervention.
Read more about the disease in the next video.
