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The birth of a child is a holiday for every prosperous family. The expected miracle will come into the world, where it will be loved, cherished and collectively prepared for the transition to the next, “adult” world. But can a family just as unselfishly await the birth of a child if he has no ideal condition physical and psychological health? After all, no one gives one hundred percent guarantees, and it is especially difficult to learn such “news” even before the birth of the child.

Genomic pathologies are considered the most severe, since their cause is hidden deep within the personal history of the development of a particular person and his ancestors. The reasons for the development of various syndromes, including Down syndrome, are not always obvious and unambiguous.

Down syndrome can sometimes be diagnosed before the baby is born. Typically, such a test is offered to parents whose families have had cases of the syndrome, or if the parents are over 35 years old.

How is the syndrome diagnosed?

The risk of such tests is that they involve an invasive method of obtaining materials. With them, special instruments are inserted into the mother's uterus - and this entails the risk of damage to the walls of the uterus, the fetus itself, and poses a risk of miscarriage.

There are also non-invasive testing methods that involve testing through the mother's blood. Such procedures are carried out at the end of the first or already at the beginning of the second trimester of pregnancy.

The test does not always give a guaranteed result: the rate of false readings is 2-5%. Laboratory verification of the results takes several weeks.

Signs of Down syndrome in newborns

If special tests have not been carried out to detect an extra chromosome in a child, doctors can determine the presence of signs of Down syndrome immediately at birth.

But any external signs of the syndrome can be divided into three conditional groups:

The first thing that catches your eye is the flat shape of the face (including the nose), which is present in 90% of cases. A newborn may also have a shortened skull (brachycephaly), a skin fold on the neck, narrow eyes (“Mongoloid eyes”), a flat back of the head, an open mouth and small ears.

The hands of a sick baby will also tell their story: transverse folds on the palms, short and large hands, hypermobile joints, curvature of the little fingers.

Upon closer examination, an infant with Down syndrome will have short limbs and short phalanges. There is a high possibility of having a short or flat nose, dental defects, a grooved tongue, a narrow arched palate, strabismus and even a deformed chest(which over the years will become a resonating factor for the development of already guaranteed heart diseases).

Other visual impairments in addition to strabismus include lens opacities and Brushfield spots - the presence of at least one malfunction is typical in 100% of cases.

In addition to external signs, congenital defects are distinguished:

Is it possible to cure Down syndrome?

Diagnosing Down syndrome does not require any special treatment method, since it does not exist. Although earlier attempts were made to treat infants and children with the syndrome with pituitary and thyroid hormones, these methods were never brought to the final stage.

Of much greater importance are the psychological and moral measures and conditions that must be observed by the family in the event of Down syndrome being detected in one of the children.

It is possible to live with Down syndrome; nowadays the average life expectancy is increasing – sometimes this figure reaches “50 years”.

Children with the syndrome, despite common misconceptions, are teachable. They are also capable of love, care, interest in life, individuality and even talent.

Yes, it is true that children with the syndrome have, to a greater or lesser extent, mental and speech development delays.

The second truth is that such children need love and support much more than other children. This is especially acutely felt over the age of 8 - when the child finds himself in an environment of communication with other children, for whose kindness and understanding no educator or teacher can vouch.

Naturally, in our country it is much better for children with Down syndrome to be educated at home and special programs, but you should never forget about communicating with other children. In some countries, there are programs for training healthy children to communicate with retarded children.

What does Down syndrome mean for adult life?

People with Down syndrome are expected to be short, have a hoarse or nasal voice, and have a low IQ, which is equivalent to moderate mental retardation.

Disorders from the cardiology caste, Alzheimer's disease and acute leukemia, pneumonia are far from full list dangers for which a person with Down syndrome is at risk.

But at the same time, the extra 21st chromosome provides a person with some protection from the development of cancer cells.

Most men with this syndrome are doomed to infertility, but women can have children. But many people with Down syndrome still get married and quite often still give birth to healthy children.

How to recognize and can Edwards syndrome be cured?

Many people have heard about a disease called Down syndrome, but not everyone knows that there is another genetic disease based on a violation of the number of chromosomes - this disease is called Edwards syndrome. Why does Edwards syndrome occur in a fetus, what is it and how to determine whether there is a risk for the mother to give birth to a sick child?

The causes of Edwards syndrome are the repetition of the eighteenth chromosome in the human genetic code. This repetition in genetics is called trisomy, and the second name of the disease is “Trisomy-18”. An extra chromosome contributes to the occurrence of all kinds of deviations from the norm in the development of the fetus even in the womb. These deviations subsequently lead to the death of the child or make him disabled for life. The syndrome was named after the physician D. Edwards, who for a long time engaged in a comprehensive study of this disease. It was he who discovered that the cause of this disease is one extra and unnecessary chromosome for a person.

The karyotype of Edwards syndrome is the presence in the human genetic code of an increased number of eighteenth chromosomes.

Visually, the karyotype formula looks like this:

There are three types of trisomy (doubling):

How common is the disease?

More than half of the embryos with the manifestation of this disease die in utero (approximately 60%). Among the diseases genetic nature this disease ranks second after Down syndrome. For every 15,000 babies, there are approximately two babies born with signs of Edwards disease.

Only 10% of infants with such developmental pathologies survive to one year. Boys can live up to 3 months, and sick girls up to ten months of age. Very few children survive and progress to adulthood.

All these are consequences of negative pathologies of fetal development.

What are the causes of Edwards syndrome? The sex cells of a man and a woman each carry twenty-three chromosomes. After fertilization, the egg combines all the common chromosomes of the parents, that is, 46 pieces. It is still unknown why the 47th chromosome appears in some cases, but the sad result of this appearance is the beginning of a genetic mutation in the fetus.

There are three types of this disease:

1. Chromosome 47 is the cause of the mutation in 95% of cases;
2. in 2% the cause of the mutation is not an extra chromosome, but an elongation or translocation of the eighteenth chromosome;
3. the remaining 3% of cases are mosaic trisomy - the forty-seventh chromosome is found only in some of the cells of the patient's body.

The most severe case is considered the first variant of this disease.

Signs of the disease may appear as appearance a newborn, and in the pathology of the development of the psyche and nerves, in improperly developed internal organs.

Children suffering from this disease have pathological changes appearance.

Edwards syndrome in newborns manifests itself:

• too small fetal weight (2100–2200 g);
• small head size compared to the body;
• micrognathia - abnormal development of the jaws;
• cleft palate or split lip;
• constant uneven squeezing of fingers;
• low-lying ears;
• fused or webbed toes;
• uneven feet (“rocking foot”);
• microstomia - a disproportionately small mouth opening.

Pathologies of internal organs

The second sign of the disease is internal pathologies in the body: internal organs function incorrectly or not at all, there is poor motor skills and inhibited mental and nervous development.

Pathologies of internal organs may include:

• defective interventricular septum or congenital heart disease;
• various hernias;
• open ductus arteriosus;
• gastroesophageal disease;
• inability to eat;
• esophageal atresia or obstruction anal passage;
• Meckel's diverticulum.

Pathologies of the central nervous system manifest themselves in:

• delay general development psyche and nerves;
• intellectual disability;
• underdevelopment of the cerebellum and corpus callosum;
• insufficiently deep or completely absent convolutions of the brain.

Pathologies genitourinary system for Trisomy 18:

• cryptorchidism and hypospadias;
• increased size of the clitoris and undeveloped ovaries;
• a curved or segmented kidney;
• duplication of the ureters;
• atrophied muscular system, slanted eyeballs, spinal scoliosis.

Genetic diseases differ from viral and other varieties in that it is impossible to accidentally become infected with them or become ill from someone due to lack of dietary nutrition or lack of a healthy lifestyle. These diseases are recorded in human cells at the gene level.

Deformations of the face, skull, skeleton

Patients have obvious deformations in the bones of the skull and facial structure:

• the shape of the skull is dolichocephalic, with a sloping forehead and an elongated occipital part;
• short neck, disproportionately tiny mouth and narrow chin;
• bifurcation of the palate or upper lip;
• small and narrow eyes with pronounced squint;
• the ear is abnormally low relative to the head, there are no lobes and no tragus on the ears;
• partially unformed or absent auditory opening;
• loose and sagging skin (ptosis), there is a “collar” fold of skin on the neck;
• the skeleton of the patients is also partially deformed;
• congenital hip dislocations;
• wide and short chest;
• the spaces between the ribs are less than normal;
• almost always pathologies on the feet (clubfoot, rocker feet, thick and short big toes);
• fingers crossed.

Diagnosis of the disease

It is possible to diagnose Edwards syndrome at different stages of fetal development or immediately after the end of childbirth. Intrauterine development is examined using an ultrasound examination apparatus and biochemical tests; pathologies in the development of a newborn child are determined by a pediatrician.

They try to determine genetic abnormalities of the fetus long before the birth of the baby. For this purpose, prenatal diagnosis is carried out at two stages of pregnancy.

During initial diagnosis, which is carried out at 11–13 weeks, in expectant mother Various screening tests are taken (biochemistry tests). This procedure allows you to determine the karyotype of the embryo and which risk group it can be classified into.

At this stage of pregnancy, a woman’s blood tests can determine:

• the percentage of proteins in the blood for the presence of chorionic hormone - hCG;
• percentage of plasma protein A.

When diagnosing Edwards syndrome, the results of biochemical tests and the age of the mother are taken into account. Based on the totality of data, the expectant mother is classified as a risk group.

Second stage of diagnosis carried out among women at risk:

• during pregnancy from 8 to 12 weeks, a chorionic villus biopsy is performed;
• at a period of 14 to 18 weeks - the uterine fluid in which the baby develops is studied (the procedure is called amniocentesis);
• 20 weeks after the amniocentesis procedure, a blood sample is taken from the baby's umbilical cord in utero (cordocentesis) and examined for the presence of an extra chromosome.

If primary genetic diagnosis for Edwards syndrome has not been carried out, a woman at advanced stages of pregnancy will be examined using an ultrasound machine.

Over a long period of time, an ultrasound examination device can visually show a specialist pathology in the development of the skeleton, genitourinary system or muscles and tissues of the head, cardiovascular system.

When a child is born, pathologies in its development can be determined by a specialist during examination.

Visual indicators of the presence of Edwards syndrome in a newborn are:

• too much small size baby's head (microcephaly);
• bifurcation on the lip or palate;
• dermatography (absence of a distal fold on the fingers, altered skin pattern of the palms, a groove across the palm, the presence of arcs on the skin of the pads of the fingers, the axial triradius is located distally, the ridge count is increased).

Further diagnosis to confirm this disease in a newborn child: its karyotype is determined.

Is it possible to cure a baby?

Only one in ten children born with this condition survives to 12 months of age. Therefore, the initial treatment of sick babies is aimed at correcting those pathologies that threaten the baby with death. In case of intestinal or anal atresia, measures are taken for defecation, the baby is fed through a tube, if inflammatory or infectious processes- carry out therapeutic treatment.

If the baby can be saved, then surgical interventions are subsequently performed:

• remove the cleft palate;
• fight heart defects;
• operate on umbilical and inguinal hernia.

Children are also treated with medications - medications are used for increased acidity, flatulence, constipation.

Often Edwards syndrome gives impetus to the development of diseases such as:

• otitis media;
• kidney cancer;
• pneumonia and conjunctivitis;
• snoring and pulmonary hypertension;
• high intra-arterial pressure;
• sinusitis and sinusitis;
• infectious inflammation of the urinary and reproductive systems.

For the majority of children born with Edwards disease, the further prognosis for the development of the disease is unfavorable - those who do not die before one year and live to a relatively adult age have obvious mental inhibition in development, cannot take care of themselves, they need constant care and control. But they understand when they are treated kindly, comforted, and played. Patients with Edwards syndrome can eat, smile, and little by little learn all sorts of useful household skills.

The fact that with this disease patients have a whole “bouquet” of improperly developed and non-functioning organs leads to a high percentage of child mortality. If, according to the results of an examination in the first months of pregnancy, a woman is classified as at risk for this disease fetus - doctors usually give recommendations for artificial termination of pregnancy. But the final decision is made expectant mother. Often a woman does not dare to terminate her pregnancy, hoping for a medical error and a favorable outcome. Unfortunately, effective ways to combat the manifestation of Edwards syndrome in given time not found.

Is there a cure for Down syndrome?

The answer to the question - is it possible in principle to cure Down syndrome can be answered briefly - no. But not everything is so simple - after all, this congenital disease- not just a set of chromosomes, but also a complex of external, internal factors, psychological and physical characteristics. It is possible to correct features individually, so we can say that with some effort you can bring many of the child’s characteristics closer to the norm. A child may not only be developed - he may be more developed than his peers without a genetic disease.

Features of the disease

Down syndrome is a genetic disorder when one extra chromosome, the 47th chromosome, appears at the cellular level. It is difficult to call such a state of the body a disease, but still a child with such a congenital disease develops according to a special principle, differs externally and psychologically.

This genetic trait occurs in approximately one in 800 cases. Children may have physical disabilities, often hidden from public view, that need to be identified and treated. As for psychological development, if a child is interested in something and works in a certain direction, then the child can take any course of study and become a professional in his field, because he has some absent-mindedness, which is fully compensated by diligence and specialization in the chosen field.

Children who have this genetic syndrome, are distinguished by eyes with slightly raised corners of the eyes, the face does not have sufficient volume, the mouth is smaller, and the tongue large sizes. In addition to external signs, the syndrome is accompanied by physical diseases - heart defects, which sometimes need to be operated on, damage to hearing, vision, and may be weakened thyroid, children have a weakened immune system and are more likely to get colds. Intellectual disorders in the syndrome consist of developmental delay, it can be of varying degrees, sometimes it manifests itself in naivety and innocence, despite the fact that children are quite teachable and can take their rightful place in society.

Children with Down syndrome must be closely monitored and treatment may include:

• visits to the doctor should be regular, and if necessary, fluoroscopy is performed;
• chronic diseases are treated with medications, and drug prophylaxis is also given if there is a threat of any disease, if a child is found to be prone to it;
• since children are susceptible to various genetic defects, which manifest themselves in various physical ailments, carry out surgical operations, for example, with heart disease;
• An important role in treatment is played by psychological support, the development of intelligence through intensive training in regular or special educational institutions;
• moral education helps to overcome the teenage crisis and confidently enter adulthood.

Under no circumstances should a patient be isolated from society; he must be integrated into it, no matter how the environment perceives him. The child must be able to overcome difficulties of both physical and psychological development.

People who have Down syndrome are more likely to have:

• congenital heart disease;
• oncological diseases of various types, unfortunately leukemia is common;
• the immune system is weakened, so children often suffer from infectious and viral diseases;
• the thyroid gland may not function well;
• bones, muscles, nervous system may be subject to various diseases, or simply be weakened and susceptible to injury;
• painful hearing;
• painful vision;
• seizures in epilepsy are possible;
• developmental delay may have varying degrees, but, as a rule, it is present and noticeable; mental retardation in the form of oligophrenia is also possible;
• possible Alzheimer's disease;
• the body undergoes aging faster.

People with Down syndrome should be examined by doctors regularly, even if there are no visible symptoms, to identify and prevent diseases to which they are prone. This way you can delay premature aging, which people with a genetic disorder are also prone to. The doctor draws up a schedule for fluoroscopy, and any deviations detected in time are successfully treated. Unfortunately, the disease cannot be cured at the genetic level, but life can be made easier and more fulfilling without unnecessary suffering.

When is surgery needed?

Unfortunately, half of children with Down syndrome are diagnosed with heart defects, as well as pulmonary hypertension (increased lung pressure), these diseases have complications:

• Fallot's syndrome;
• the ductus arteriosus is open;
• the intercardiac septum sometimes has a defect;
• Ventricular septal defect also occurs.

Heart disease leads to increased pressure in the lungs, so they need to be detected early. A timely diagnosed heart is either completely treated or healed so that the progression of the disease slows down. Surgery is necessary to remove cataracts, which occur in every thirtieth patient with Down syndrome.

Adaptation to society

People with Down syndrome find themselves in a situation in which they cannot independently adapt to a full life in society, and society does not want to perceive them as full members. Therefore, there is no program for their socialization, no professional adaptation of these people.

It turns out that they are not taught because they are supposedly unteachable or not very teachable. But that's not true. Of course, people with Down syndrome cannot be as multitasking as citizens without genetic diseases. But still, if you instill a love for a certain type of activity and specialize in people with developmental disabilities, then you can fully expect them to be good workers.

People with Down syndrome don't just work well. They can perform intellectual tasks and be professionals. You just need to not succumb to stereotypes, but understand that they need to be trained and treated as normal citizens who have a need to work and be useful in society. The syndrome is a signal that a person needs to be helped to become independent.

If you work purposefully, we can say that the syndrome can be cured, because the main disadvantage of people with the syndrome is not a genetic defect, but disdain other people that can be overcome.

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What is Down syndrome called?

It should be noted that this is not a disease, but a set of certain genetic traits. Such a diagnosis can only be made by a doctor who uses a blood test to determine the presence of an extra chromosome. Down syndrome is a set of intellectual and physical symptoms that arise as a result of the formation in the body of an embryo in the 21st pair of chromosomes of an additional chromosome, the so-called chromosomal pathology. This syndrome was named after the English physician John Langdon Down, who was the first to describe the pathology, its signs and consequences for the fetus and its development in 1866. According to statistics, 1 in 700-800 children is affected by Down syndrome. Since Down syndrome is a problem related solely to the set of chromosomes, there are no medications for it. this moment No. There are certain therapies that help control symptoms and medical consequences that occur in such people.

Let us remind you that children with Down syndrome have raised corners of the eyes, flat face, the oral cavity is slightly smaller than usual, and the tongue is slightly larger. Some conditions are more common in people with Down syndrome, such as: congenital heart defects, some of which are serious and require surgery; defects in hearing and even more often in vision are common; thyroid diseases or colds often occur. People with Down syndrome typically have varying degrees of intellectual impairment.

What therapy is carried out

Therapy for people with Down syndrome may include:

• Regular examinations and fluoroscopy.
• Drug prevention.
• Surgical interventions.
• Psychological counseling and support.

Regular examinations and fluoroscopy People with Down syndrome have an increased risk of developing various diseases. They are most prone to such ailments as:

• Congenital heart defect;
• leukemia and other types of cancer;
• problems with the immune system;
• thyroid diseases;
• problems related to bones, muscles and nerve endings;
• hearing problems;
• vision problems;
• epilepsy;
• developmental delay;
• oligophrenia (mental retardation);
• premature aging;
• Alzheimer's disease.

Due to all of the above diseases and their complications, people with Down syndrome have an increased risk premature death. Regular checkups are very important. Visits to the doctor can ensure timely identification of the disease and, if necessary, its treatment. The doctor can also schedule a mandatory fluoroscopy, which can help identify the problem before symptoms appear. For the medicinal treatment of some consequences, only certain drugs can be used (prescribed exclusively by a doctor). But it is the syndrome that cannot be treated. Until today, not a single medicine has been found that can cure Down syndrome as a whole.

Surgical interventions for Down syndrome

Some conditions that occur in people with the syndrome require surgery. For example, about half of children suffering from this syndrome have congenital heart disease and pulmonary hypertension (increased pressure in the lungs). Associated congenital heart problems in people with Down syndrome include:

• Fallot's syndrome (blue type congenital heart defect);
• patent ductus arteriosus;
• atrial septal defect;
• ventricular septal defect of the heart.

If heart disease is identified before the onset of pulmonary hypertension, surgery will provide favorable results and help, if not cure, then slow the progression of heart disease. In addition, on average, 3% of children with Down syndrome develop cataracts, which are easily removed with surgery.

Psychological support

Counseling for people with Down syndrome and parents whose children are affected has been shown to be very helpful. Psychological support for people with Down syndrome is no less important, as it helps them adapt to society. It is also very important to study as much as possible about Down syndrome and the consequences it leads to. People need to understand the specifics of this disease, know how to behave with such people and how to help them.

Reye's syndrome: symptoms, how to treat

Acetylsalicylic acid (aspirin) is one of the most popular and affordable medications used to treat various diseases and ailments. But this seemingly safe and familiar drug from childhood is not suitable for everyone. In 1963, a dangerous and rapidly developing disease was identified, threatening the life of a child, resulting from hypersensitivity to this medicine. The disease is called Reye's syndrome. How dangerous the disease is, how to recognize it and what measures to take - I decided to learn about all this from a qualified radiation diagnostics doctor.

General description of the disease

Reye's syndrome is quite rare, but quite dangerous disease which may threaten the child's life. This disease is accompanied by fatty liver and inflammation of the brain, a complete disruption of the body's vital functions. Reye's syndrome mainly affects children and adolescents; it rarely develops in adults.

The first description of the syndrome appeared in 1963. This is many years of work by Ray and his colleagues. For several years, patients were observed, the causes of the disease and symptoms were studied.

Even then, it was noted that significant outbreaks of the disease were observed among patients with influenza, chicken pox, rubella, measles, etc. It was Ray’s team who noticed that taking aspirin and tetracycline drugs only aggravated the development of the disease.

You can avoid many health problems if you get tested regularly. What can they talk about? Read here.

Most typical symptoms

The onset of Reye's syndrome often coincides with the recovery period after a viral illness such as chicken pox or influenza, or after taking medications containing aspirin. The development of symptoms usually occurs within 3-7 days from the onset of the underlying viral disease. The disease develops over a period of time from several hours to 1-2 days.

The first manifestations of Reye's syndrome usually include:

• sudden nausea with severe vomiting;
• loss of interest with lack of energy;
• very strange behavior including lethargy, personality changes, irritability, slurred speech;
• drowsiness, the child constantly wants to sleep.

When damage to the liver and brain occurs, the following symptoms appear:

• the child does not know where he is, does not recognize relatives and friends, cannot answer the simplest questions;
• deep, rapid breathing appears (hyperventilation);
• the child becomes very aggressive and may even attack for no reason;
• convulsions and coma appear.

With the appearance of such symptoms, when breathing is impaired, especially in young children under three years of age, drowsiness appears with a sharp transition to lethargy and complete disorientation, and then psychomotor agitation and convulsions occur; a small rash often appears on the skin of young children; urgent medical attention is necessary .

From the very beginning of the disease, the liver sharply increases in volume, kidney function is disrupted, with a subsequent decrease in the daily volume of urine. Such a child must be urgently hospitalized. To make a final diagnosis of Reye's syndrome, a liver biopsy and lumbar puncture are performed.

Only the use of intensive drug therapy can alleviate his condition, subject to immediate medical attention.

Even if it was possible to bring the child out of a coma, irreversible changes may occur in the brain that lead to mental fatigue and the emergence convulsive syndrome, liver cirrhosis develops.

Only light form diseases, timely appeal Seeing a doctor and very intensive therapy make it possible for the child to be completely cured.

An electroencephalogram initially reveals diffuse rhythm disturbances in electrical pathways; in the final stage, the disappearance of any electrical activity in the brain. Biological studies reveal:

• hyperglycemia;
• respiratory (initially) alkalosis, later metabolic acidosis, and in the final stage respiratory acidosis;
• increased blood urea (especially in a comatose state);
• profound impairment of dysproteinemia tests;
• increased levels of ammonia in the blood (especially in the stage of establishing disorders);
• quickly returning to normal, despite the severe clinical course;
• increased secretion of amino acids due to renal tubular dysfunction;
• moderate leukocytosis with polynucleosis;
• CSF is always normal.

A successful outcome of treatment of the disease depends on its timeliness.

Since there are currently no known methods that can stop the course of the disease, only maintenance therapy is prescribed. Treatment of Reye's syndrome is primarily aimed at normalizing vital functions important organs and systems.

Another problem that parents often have to deal with is nosebleeds. Why they occur and how to deal with it can be read here.

To cleanse the body of excess metabolites, intravenous infusion of electrolytes, fluids and glucose is necessary (with their volume controlled due to the development of cerebral edema). Hyperammonemia is treated with hemodialysis or sodium benzoate to reduce intracranial pressure Corticosteroids and Mannitol are used. To correct breathing problems, artificial ventilation is prescribed if necessary. In case of deep coma, decompression craniotomy, exchange blood transfusion, and hypothermia are performed.

To prevent the development of Reye's syndrome, parents need to stop treating their child with drugs that include ASA as antipyretics and pain relievers. If you suspect the occurrence of the syndrome, an urgent visit to a doctor and adequate medical care is required, the timeliness of which depends on the health and life of your child.

Sjögren's syndrome is autoimmune disease, which causes systemic damage to connective tissues. The exocrine glands - the salivary and lacrimal glands - suffer the most from the pathological process. In most cases, the disease has a chronic progressive course.

Sjögren's syndrome - what is this disease?

The complex of symptoms of dry syndrome was first noticed by the Swedish ophthalmologist Sjögren a little less than a hundred years ago. He discovered that a large number of his patients who came to him with complaints of dry eyes had a couple of other identical symptoms: chronic inflammation of the joints and xerostomia - dryness of the oral mucosa. The observation also interested other doctors and scientists. It turned out that this pathology is common and specific treatment is required to combat it.

Sjögren's syndrome - what is it? This chronic autoimmune disease occurs against a background of malfunctioning of the immune system. Individual organism own cells mistakes them for foreign ones and begins to actively produce antibodies to them. Against this background, an inflammatory process develops, which leads to a decrease in the function of the exocrine glands - usually the salivary and lacrimal glands.

Sjögren's syndrome - causes

Medicine cannot yet say unequivocally why autoimmune diseases develop. That’s why it’s a mystery where dry Sjögren’s syndrome comes from. It is known that genetic, immunological, hormonal and some external factors are involved in the development of the disease. In most cases, the impetus for the development of the disease is viruses - cytomegalovirus, Epstein-Barr, herpes - or diseases such as polymyositis, systemic scleroderma, lupus erythematosus, rheumatoid arthritis.

Primary Sjögren's syndrome

There are two main types of disease. But they appear approximately the same. Drying of the mucous membranes in both cases develops due to lymphocytic infiltration of the exocrine glands along the gastrointestinal tract and respiratory tract. If the disease develops as an independent disease and nothing preceded its appearance, then this primary disease Sjögren.

Secondary Sjögren's syndrome

As practice shows, in some cases the disease occurs against the background of other diagnoses. According to statistics, secondary dry syndrome is found in 20 - 25% of patients. It is diagnosed when the disease meets the criteria for problems such as rheumatoid arthritis, dermatomyositis, scleroderma and others associated with connective tissue lesions.

Sjögren's syndrome - symptoms

All manifestations of the disease are usually divided into glandular and extraglandular. The fact that Sjogren's syndrome has spread to the lacrimal glands can be understood by the feeling of burning, “sand” in the eyes. Many people complain of severe itching of the eyelids. Often the eyes turn red, and a viscous whitish substance accumulates in their corners. As the disease progresses, photophobia occurs, the palpebral fissures become noticeably narrower, and visual acuity deteriorates. Enlargement of the lacrimal glands is a rare occurrence.

Characteristic signs of Sjogren's syndrome, which affects the salivary glands: dry mucous membranes in the mouth, red border, lips. Often, patients develop jams, and, in addition to the salivary glands, some nearby glands also enlarge. At first, the disease manifests itself only during physical exertion or emotional stress. But later, the dryness becomes permanent, the lips become covered with crusts that crack, which increases the risk of a fungal infection.

Sometimes, due to dryness in the nasopharynx, crusts begin to form in the nose and auditory tubes, which can lead to otitis media and even temporary hearing loss. When the throat and vocal cords become very dry, hoarseness and hoarseness appear. And it also happens that a swallowing disorder leads to atrophic gastritis. The diagnosis is manifested by nausea, loss of appetite, heaviness in the epigastric region after eating.

Extraglandular manifestations of the symptom complex Sjogren's syndrome look like this:

• joint pain;
• stiffness of muscles and joints in the morning;
• muscle weakness;
• small bloody rash that occurs against the background of vascular damage;
• neuritis of the facial or trigeminal nerves;
• hemorrhagic rash on the trunk and limbs;
• vaginal dryness.

Sjögren's syndrome - differential diagnosis

The definition of the disease mainly relies on the presence of xerophthalmia or xerostomia. The latter is diagnosed using sialography, parotid scintigraphy and biopsy salivary glands. To diagnose xerophthalmia, the Schirmer test is performed. One end of a strip of filter paper is placed under the lower eyelid and left for a while. In healthy people, about 15 mm of the strip will get wet after 5 minutes. If Sjögren's syndrome is confirmed, the diagnosis shows that no more than 5 mm is wet.

When making differential diagnoses, it is important to remember that SS can develop in parallel with such diagnoses as autoimmune thyroiditis, pernicious anemia, and drug-induced disease. The determination of primary sicca syndrome is significantly facilitated by the detection of SS-B antibodies. It is most difficult to diagnose Sjögren's disease with rheumatoid arthritis, because joint damage begins long before signs of sicca appear.

Sjögren's syndrome - tests

Diagnosis of the disease involves laboratory tests. When diagnosed with Sjogren's disease, tests show approximately the following results:

1. A general blood test determines accelerated ESR, anemia and low level leukocytes.
2. OAM is characterized by the presence of protein.
3. Protein is increased and in biochemical analysis blood. In addition, the study reveals the maximum titers of rheumatoid factor.
4. A special blood test for the presence of antibodies to thyroglobulin in 35% shows an increase in their concentration.
5. The results of a salivary gland biopsy confirm the symptoms of Sjögren's syndrome.

Sjögren's syndrome - treatment

This serious problem, but it is not fatal. If you pay attention to its signs in time and start treatment when Sjögren’s disease is diagnosed, you can live with it and feel quite comfortable. The main thing for patients is not to forget about the importance of a healthy lifestyle. This will help strengthen the immune system, prevent the pathological process from actively developing and significantly reduce the risk of complications.

Can Sjögren's syndrome be cured?

Once the diagnosis is confirmed, the patient receives therapeutic recommendations. Sjögren's syndrome is currently treated successfully, but it is not yet possible to completely get rid of the disease. For this reason, only symptomatic therapy is carried out. The criteria for assessing the quality of treatment are normalization clinical manifestations illness. If all therapeutic prescriptions help, laboratory parameters and the histological picture improves.

Therapy for sicca syndrome involves alleviating symptoms and, if necessary, combating the underlying autoimmune disease. Before treating Sjögren's syndrome, a diagnosis is required. Afterwards, as a rule, the following means are used:

• glucocorticoid Prednisolone (schedule and dosage are determined individually depending on the severity of the syndrome and the severity of its symptoms);
• angioprotectors - Parmidine, Solcoseryl;
• immunomodulator Splenin;
• anticoagulant Heparin;
• Contrical or Trasylol are drugs that stop the production of proteolytic enzymes;
• Cyostatics - Chlorobutin, Azathioprine, Cyclophosphamide (mainly recommended to be taken together with glucocorticoids).

To get rid of dry mouth, rinses are prescribed. Dry eye syndrome is treated by instilling saline solution, Hemodez. Bromhexine can help dry bronchi and trachea. Applications with Dimexide, Hydrocortisone or Heparin combat inflammation of the glands. Sometimes dry mouth when diagnosed with Sjogren's syndrome leads to the development of dental diseases. To prevent them, you need to take care of maximum oral hygiene.

Sjögren's disease - treatment with folk remedies

Dry syndrome is a whole complex of symptoms and signs. It is better to fight all of them traditionally. But sometimes with illness Sjögren's syndrome traditional methods, used in parallel, help improve the patient's condition. Some patients, for example, note that eye drops made from dill and potato juice are much more effective than pharmaceutical tear fluids.

Herbal decoction for rinsing

Ingredients:

• chamomile flowers - 1 tbsp;
• sage leaves - 1 tbsp. l.;
• water - 1 glass.

Preparation and use:

1. Mix the herbs and chop lightly.
2. Boil water and pour into the dry mixture.
3. The medicine needs to sit for 40 minutes.
4. After straining, it is ready for use.

Sjögren's syndrome - prognosis

This disease is not life-threatening. But because of it, the quality of life of patients noticeably worsens. Treatment helps prevent complications and preserves the ability of adults to work; Sjögren's syndrome is extremely rare in children. If therapy is not started, the disease can develop into a severe form, which, when accompanied by secondary infections such as bronchopneumonia, sinusitis or recurrent tracheitis, sometimes leads to disability.

– a genetically heterogeneous hereditary disease characterized by various metabolic disorders and the formation of components of the central nervous system. Symptoms of this pathology, as a rule, appear in early childhood and include muscle hypotonia, problems with feeding and delayed psychomotor development. With further progression of the disease, epileptic seizures, hyperkinesis, respiratory disorders. Diagnosis of Leigh syndrome is carried out on the basis of data from the patient’s current status, magnetic resonance imaging, and molecular genetic tests. There is no specific treatment for this pathology; symptomatic therapy only slightly slows down the progression of the disease.

General information

Leigh syndrome (subacute necrotizing encephalomyelopathy) is a hereditary neurodegenerative disease of the central nervous system, which is characterized by early onset and steady progression of neurological disorders. This condition was first described in 1951 by the English psychiatrist Denis Lee, who defined it as a hereditary variant of encephalomyelopathy. Further research has shown that Leigh syndrome is an extremely heterogeneous condition in terms of etiology - it is caused by defects in multiple genes located on autosomes, the X chromosome and mitochondrial DNA. For this reason, the mechanism of inheritance of the disease can be (depending on the nature of the mutation) autosomal recessive, sex-linked or mitochondrial. Due to the variety of genetic defects that cause Leigh syndrome, the gender distribution of this condition also varies, however, according to many geneticists, in general it can be considered that it affects both boys and girls equally. The incidence is approximately 1 case per 34-36 thousand newborns.

Causes and classification of Leigh syndrome

The causes of Leigh syndrome can be mutations in a wide range of genes located on different chromosomes. However, the pathogenesis of this condition is approximately similar in various forms of pathology and is most often associated with disruption of the processes cellular respiration and the functioning of the mitochondrial respiratory chain. In some forms of Leigh syndrome, dysfunction of the pyruvate dehydrogenase complex has also been observed. Disruption of the structure of mitochondrial respiratory chain proteins leads to insufficient synthesis of ATP, which is the main source of energy in all cells of the body. Neurons and neuroglial cells are especially sensitive to a lack of energy, which causes the development of various disorders even from childhood. The classification of all genetic defects in Leigh syndrome is based on which component of the respiratory chain (which is a protein complex) of mitochondria is disrupted as a result of the mutation.

1. Leigh syndrome due to damage to complex 1 (NADH-KoQ reductase). This variant can be inherited either autosomal recessively or mitochondrially. The most common variants of this type of disease are caused by mutations of the nuclear genes NDUFA10 (located on the 19th chromosome), NDUFS4 and DUFAF2 (5th chromosome), NDUFS3 (11th chromosome). In addition, defects in mitochondrial DNA - the MTND1, MTND2 and MTND3 genes - can lead to the development of Leigh syndrome as a result of damage to mitochondrial complex 1. The result of this is a disruption of the initial stage of electron and hydrogen transfer in the respiratory chain, which reduces ATP synthesis.
2. Leigh syndrome, caused by defects in proteins included in mitochondrial complex 2 (succinate-KoQ reductase). A disease of this type is inherited only in an autosomal recessive manner; a relationship between Leigh syndrome and mutations of the SDHA gene, localized on chromosome 5, has been reliably established. This gene encodes subunit A of the succinate dehydrogenase complex; with genetic disorders of this type, the activity of the enzyme decreases, which leads to the development of the disease.
3. Leigh syndrome, resulting from a disorder in the structure of proteins of mitochondrial complex 3 (KoQH2-cytochrome c reductase). This variety includes the most common variant of the disease, caused by a mutation in the BCS1L gene located on chromosome 2. The development of Leigh syndrome is caused by reduced expression of the enzyme ubiquinone-c-reductase, which is part of the mitochondrial complex 3. Its release is regulated by a specific protein, which is encoded by the BCS1L gene - as a result of the mutation, the resulting defective protein is not able to fully perform its functions. This variant of Leigh syndrome is characterized by autosomal recessive inheritance.
4. Leigh syndrome caused by damage to mitochondrial complex 4 (cytochrome c oxidase). It can be caused both by mutations of nuclear genes (COX10, SCO1), mainly located on chromosome 17, and by damage to mitochondrial DNA - this was determined by the nature of inheritance of some forms, but the key genes have not yet been identified.
5. Leigh syndrome, caused by a disorder in the structure of mitochondrial complex 5 (ATP synthase). This variant includes relatively rare mutations of the ATPAF2 gene, located on chromosome 17. As a result of the mutation, the work of ATP synthase is disrupted, and the formation of ATP by the oxidative pathway is sharply reduced.

A separate variant of Leigh syndrome is often indicated as a form of the disease caused by mutations of the PDHA1 gene, which is located on the X chromosome. As a result, the inheritance of this type of pathology is gender-linked - almost exclusively boys are affected, while women are carriers of pathological genes. The mitochondrial mode of inheritance of Leigh syndrome also has many features. The transmission of pathological genes occurs from mother to offspring and continues only female line. Since each mitochondria has its own DNA molecule, both “healthy” and “sick” organelles are simultaneously present in the cell, and during cell division (including during meiosis during the formation of eggs), the distribution of diseased genes is unequal. Women with a relatively small percentage of “sick” mitochondria in their cells can be phenotypically healthy, but pass them on to their offspring. It is impossible to accurately predict how many abnormal mitochondria the child of such carriers will receive, so the likelihood of developing Leigh syndrome in the children of these women is uncertain.

Symptoms

Manifestations of Leigh syndrome usually occur during the first year of a child’s life, sometimes they can be registered at the age of 2-5 years, in rare cases, the development of the disease begins in adolescence. Usually the first manifestation of the pathology is drowsiness or, conversely, increased excitability of the child; in infants, malnutrition and underweight are observed. In the future, Leigh syndrome leads to a delay in psychophysical development, and in older children to a gradual loss of already acquired skills. Among other neurological symptoms of the disease, the most common are paresis, tremors of the limbs, impaired coordination of movement, damage to peripheral nerves, decreased tendon reflexes. In the future they can register clonic seizures and epileptic seizures.

Due to the lack of energy caused by Leigh syndrome, not only the nervous system suffers, but also other organs with high ATP consumption. In most cases, sick children experience muscle hypotonia and weakness. The disease also affects the liver, an organ with very high energy consumption. Patients with Leigh syndrome often exhibit liver enlargement, jaundice, and sometimes hepatolienal syndrome. As the pathology progresses, breathing problems occur - it becomes difficult, sometimes taking on the character of Cheyne-Stokes breathing. A number of patients develop myocardial dystrophy over time.

Leigh syndrome has a progressive course. At the terminal stages, damage to the organs of vision is observed, which is manifested by nystagmus, impaired color vision, and strabismus. Ultimately, optic nerve atrophy and complete blindness may occur. Muscular hypotonia and hyporeflexia are replaced by spastic muscle tension and increased tendon reflexes. 2-7 years after the first symptoms of Leigh syndrome appear, a sharp drop in body weight occurs, the above manifestations increase sharply, and death occurs due to respiratory or cardiovascular failure.

Diagnosis and treatment of Leigh syndrome

To determine the presence of Leigh syndrome, magnetic resonance imaging of the brain, electroneuromyography, the study of hereditary history, and molecular genetic tests are used. Upon examination, characteristic neurological symptoms are revealed, tremors of the limbs, retardation in psychophysical development, and in infants, underweight. Magnetic resonance imaging of the brain reveals symmetrical changes in the medulla oblongata, thalamus and pons; sometimes similar changes can be recorded in the spinal cord. The best results for diagnosing Leigh syndrome using MRI are obtained using T2W and FLAIR modes.

In cases where there are signs of damage to peripheral nerves and muscles, electroneuromyography is performed to diagnose Leigh syndrome. In this disease, the main and most common result of ENMR is a slowdown in the speed of nerve impulse transmission, which indicates demyelination of the nerves. The study of hereditary history is informative in the case of autosomal recessive forms of the disease; with mutations of mitochondrial DNA genes, it is difficult to clearly determine the familial nature of the pathology. Molecular genetic diagnostics are widely used only for some forms of Leigh syndrome (caused by mutations of the BCS1L, SURF1 and some others genes).

There is no specific treatment for this pathology; symptomatic therapy is used: anticonvulsants and nootropics, drugs to improve cerebral circulation. An important role in the treatment of Leigh syndrome is played by the administration of vitamins that serve as cofactors for mitochondrial respiratory chain enzymes - B1, B6, Q10. Their regular intake allows you to somewhat slow down the progression of the disease and reduce the severity of symptoms. However, despite all the therapeutic measures taken, 80% of patients die 2-7 years after registering the first manifestations of the pathology.

Prognosis and prevention

The prognosis of Leigh syndrome is extremely unfavorable, since most patients die several years after the onset of the disease. Symptomatic treatment can somewhat slow down the progression of the pathology and reduce the severity of manifestations, but it does not provide complete improvement. In most cases, a year or two before death, the patient becomes completely disabled due to neurological, respiratory and metabolic disorders. The cause of death in Leigh syndrome is most often cardiovascular or respiratory failure. Prevention of this disease is carried out as part of medical and genetic counseling of parents before conceiving a child.

During an attack, the body rapidly tilts forward and the head bends. Cramps appear when the baby falls asleep or before waking up. The frequency of attacks can reach hundreds per day.

Causes that cause West syndrome

The most common cause of the syndrome is hypoxic damage to the baby's brain during difficult childbirth.

The causes of West syndrome are:

• congenital disorders of brain development;
• various genetic diseases;
• asphyxia;
• in premature infants - hemorrhages inside the skull.

The photo shows a child with West syndrome

It happens that the cause of this disease cannot be determined. In such cases, we should talk about idiopathic form syndrome.

Patients with clinical signs without changes in the encephalogram or patients without signs but with changes in the EEG belong to the first risk group. They do not need treatment, but an annual examination is required.

Patients of the second group have moderately expressed clinical and EEG signs.

They are treated and must be examined twice a year. The third risk group includes patients with clear clinical and electroencephalographic manifestations.

Signs and symptoms

West syndrome has the following symptoms:

• frequent, particularly untreatable epileptic seizures;
• hypsarrhythmia – EEG changes standard for the syndrome;
• psychomotor development disorder.

In 90% of children with this disorder, seizures begin in the first year of life, most often between 3 and 8 months.

First, doctors determine colic, because The signs and cries that a baby makes during and after a seizure are very similar to colic.

Standard features are:

• bending the body forward;
• cramps of the body, arms and legs;
• arms and legs can be extended to the sides to the same extent for the right and left sides of the body.

Most often, each attack lasts one or two seconds, then there is a short pause, after which the next spasm occurs. In the video you can see how West syndrome manifests itself in a small child.

Despite the fact that children may experience single spasms, infantile attacks with the syndrome, as a rule, occur in a sequence of several spasms in a row.

Children with this disorder are characterized by irritability, developmental inhibition and even degradation, which do not disappear without treatment. These infants may also act as if they cannot see.

The state of health returns to normal when the disease begins to be treated and EEG data are improving.

Healing procedures

The main treatment options are steroid medications or vigabatrin.

Steroids must be taken with caution because they can cause unpleasant side effects. Vigabatrin also has a similar property.

A neurosurgeon can perform surgery to cut adhesions meninges, remove brain tumors and congenital vascular aneurysms. A high-precision intervention technique is used through stereotactic surgery and gentle endoscopic methods.

Good results have been obtained in the treatment of West syndrome with stem cells. The method is still new and still expensive, but clearly promising.

The essence of the treatment is to restore the damaged area of ​​the brain using basic stem cells, which are the basis for any tissue, even nervous tissue.

To treat the idiopathic form of the disorder, medications are used:

• anticonvulsants (nitrazepam, epilim);
• hormonal and steroid drugs (prednisolone, hydrocortisone, tetracosactide);
• vitamin therapy - large doses of vitamin B6 (pyridoxine).

The effectiveness of treatment is determined by how quickly seizures disappear and their severity decreases. If the medication is selected correctly and the dose is sufficient, then the child begins to develop and learn correctly in the future, and lead a full life.

Unfortunately, drugs do not always have an effect, even the newest ones.

It is also necessary to take into account that medications have side effects:

• feeling of constant fatigue;
• impaired concentration;
• skin and endocrine reactions;
• depression;
• damage to peripheral nerves;
• abnormalities in liver function.

The higher the dose used, the more severe the side effects.

In a situation with a symptomatic form of the disease, the prognosis remains quite difficult today.

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Prognosis, mortality and life expectancy in West syndrome

Impossible to predict general forecast development due to various reasons, and various symptoms. Each case must be analyzed separately.

The prognosis for infants with idiopathic West syndrome is more optimistic than for symptomatic forms.

In the idiopathic syndrome, there is less severe developmental delay before the onset of seizures, and the seizures themselves are easier to treat. Children with this form often transform into other forms of epilepsy and approximately 40% of children do not differ from healthy ones.

In other cases, treatment of the syndrome is difficult, and the results are unsatisfactory; for children with symptomatic forms, the prognosis is negative, especially if resistance to medications is detected.

According to studies with West syndrome, the life expectancy of 5% of children with the disorder does not live to be 5 years old, in some cases precisely because of the disease, in others because of complications of treatment.

Less than 50% achieve remission with medication. Statistics prove that only 30% of cases are treated normally, and only every 25th child has a relatively normal level of physical and mental development.

Up to 90% of children suffer from delayed physical or mental development, even with successful treatment of seizures. Often this has nothing to do with the seizures themselves, but with the reasons underlying their development. Severe, persistent seizures can themselves cause brain damage.

Permanent brain damage associated with West syndrome includes cognitive impairment, learning difficulties, behavioral problems, paralysis, mental health problems, and autism.

About 60% of children with the syndrome develop epilepsy later in life. Sometimes the violation is transformed into other forms. Approximately half of all cases become Lennox–Gastaut syndrome.

A fifth of sick children die before one year of age. The cause of death is congenital pathologies brain development. Of those who survive, three quarters suffer from psychomotor developmental disabilities.

It is extremely important to identify West syndrome early and begin appropriate treatment immediately. The earlier treatment is started, the more likely positive outcome of the disease.

With the correct selection of antiepileptic drugs, in half of the cases it is possible to achieve an absolute cure of the child from seizures.

Late diagnosis and incorrect choice of medications lead to loss of precious time and worsen the prognosis of the disease.

West syndrome

West syndrome - serial spastic contractions in individual muscle groups ah or of a generalized nature, occurring against the background of delayed neuropsychic development and accompanied by a hypsarrhythmic EEG pattern. Manifests before the age of 4 years, mainly in the 1st year of life. In most cases it is symptomatic. Diagnosis of the syndrome is based on clinical data and EEG results. To identify the underlying pathology, a CT or MRI, PET scan of the brain, and consultation with a geneticist or neurosurgeon are required. Treatment is possible with antiepileptic drugs, steroids (ACTH, prednisolone), vigabatrin. According to the testimony, the issue of surgical treatment(callosotomy, removal of the pathological focus).

West syndrome

West syndrome is named after the doctor who observed its manifestations in his child and first described it in 1841. Due to the manifestation of the syndrome at an early age and the occurrence of seizures as a series of individual spasms, the paroxysms that characterize West syndrome are called infantile spasms. Initially, the disease was classified as generalized epilepsy. In 1952, a specific hypsarrhythmic EEG pattern was studied, pathognomonic for this form of epilepsy and characterized by slow-wave asynchronous activity with random high-amplitude spikes. In 1964, specialists in the field of neurology identified West syndrome as a separate nosology.

The introduction of neuroimaging into neurological practice has made it possible to determine the presence of focal lesions in the brain substance in patients. This forced neurologists to reconsider their views on West syndrome as a generalized epilepsy and classify it as a number of epileptic encephalopathies. In 1984, the evolution of the epileptic form of encephalopathy from its early variant to West syndrome, and over time to Lennox-Gastaut syndrome, was revealed.

Currently, West syndrome accounts for about 2% of all cases of epilepsy in children and about a quarter of infantile epilepsy. The prevalence, according to various sources, is from 2 to 4.5 cases per 10 thousand newborns. Boys are slightly more likely to get sick (60%). 90% of cases of manifestation of the syndrome occur in the 1st year of life, with a peak at the age of 4 to 6 months. As a rule, by the age of 3 years, muscle spasms disappear or transform into other forms of epilepsy.

Causes of West syndrome

In the vast majority of cases, West syndrome is symptomatic. It can occur as a result of previous intrauterine infections (cytomegaly, herpetic infection), postnatal encephalitis, fetal hypoxia, premature birth, intracranial birth trauma, asphyxia of the newborn, postnatal ischemia due to late clamping of the umbilical cord. West syndrome may be a consequence of abnormalities in the structure of the brain: septal dysplasia, hemimegaloencephaly, agenesis of the corpus callosum, etc. In some cases, infantile spasms are a symptom of phakomatoses (pigment incontinence syndrome, tuberous sclerosis, neurofibromatosis), punctate gene mutations or chromosomal aberrations (including Down syndrome). Cases of phenylketonuria with infantile spasms are mentioned in the literature.

In 9-15%, West syndrome is idiopathic or cryptogenic, i.e. its underlying cause is not established or obvious. Often, the presence of cases of fibril convulsions or epileptic seizures in the family history of the sick child can be traced, i.e., there is a hereditary predisposition. A number of researchers indicate that vaccination, in particular the administration of DPT, may be a factor provoking West syndrome. This may be due to the coincidence of the timing of vaccination and the age of typical onset of the syndrome. However, reliable data confirming the provoking role of vaccines has not yet been obtained.

The pathogenetic mechanisms of the occurrence of infantile spasms are the subject of study. There are several hypotheses. One of them associates West syndrome with a disorder of the functioning of serotonergic neurons. Indeed, patients experience a decrease in the level of serotonin and its metabolites. But it is not yet known whether it is primary or secondary. An immunological theory linking West syndrome to an increase in the number of activated B cells has also been discussed. Positive healing effect ACTH formed the basis of the hypothesis about malfunctions in the brain-adrenal system. Some researchers suggest that the syndrome is based on an excessive number (overexpression) of excitatory synapses and conducting collaterals, which form increased excitability of the cortex. They associate the asynchrony of the EEG pattern with a lack of myelin that is physiological for this age period. As the brain matures, its excitability decreases and myelination increases, which explains the further disappearance of paroxysms or their transformation into Lennox-Gastaut syndrome.

Symptoms of West syndrome

As a rule, West's symptom debuts in the first year of life. In some cases, its manifestation occurs at an older age, but not later than 4 years. The basis of the clinic is serial muscle spasms and impaired psychomotor development. The first paroxysms often appear against the background of a pre-existing delay in psychomotor development (PD), but in 1/3 of cases they occur in initially healthy children. Deviations in neuropsychological development are most often manifested by a decrease and loss of the grasping reflex, and axonal hypotonia. There may be a lack of eye tracking of objects and a disorder of gaze fixation, which is an unfavorable prognostic criterion.

Muscle spasms are sudden, symmetrical and short-lived. Their serial nature is typical, with the interval between successive spasms lasting at least 1 minute. Usually there is an increase in the intensity of spasms at the beginning of the paroxysm and a decrease at the end. The number of spasms occurring per day varies from a few to hundreds. The most common occurrence of infantile spasms occurs during the period of falling asleep or immediately after sleep. Sharp loud sounds and tactile stimulation can provoke paroxysm.

The semiotics of paroxysms that accompany West syndrome depends on which muscle group is contracting - extensor (extensor) or flexor (flexor). On this basis, spasms are classified into extensor, flexor and mixed. Most often, mixed spasms are observed, then flexion spasms, and most rarely – extension spasms. In most cases, one child experiences spasms of several types, and which particular spasm will predominate depends on the position of the body at the moment the paroxysm begins.

A generalized contraction of all muscle groups may occur. But local spasms are more often observed. Thus, cramps in the neck flexors are accompanied by head nodding, spasms in the muscles of the shoulder girdle resemble a shrug. A typical paroxysm is a “jackknife” type, caused by contraction of the abdominal flexor muscles. In this case, the body seems to fold in half. Infantile spasms of the upper extremities are manifested by abduction and adduction of the arms to the body; from the outside it seems that the child is hugging himself. The combination of such spasms with a paroxysm of the “jackknife” type is associated with the “salaam” greeting accepted in the East, and therefore was called the “salaam attack.” In children who can walk, spasms can occur as drop attacks - unexpected falls while maintaining consciousness.

Along with serial spasms, West syndrome can be accompanied by non-convulsive seizures, manifested by a sudden stop in motor activity. Sometimes there are paroxysms limited to twitching of the eyeballs. Possible breathing problems due to spasm of the respiratory muscles. In some cases, asymmetric spasms occur, manifested by abduction of the head and eyes to the side. Other types of epileptic seizures may also occur: focal and clonic. They are combined with spasms or have an independent character.

Diagnosis of West syndrome

West syndrome is diagnosed by the main triad of symptoms: cluster attacks muscle spasms, delayed psychomotor development and hypsarrhythmic EEG pattern. The age of manifestation of spasms and their relationship with sleep are important. Difficulties in diagnosis arise with late onset of the syndrome. During diagnosis, the child consults a pediatrician, pediatric neurologist, epileptologist, and geneticist. West syndrome should be differentiated from benign infant myoclonus, benign rolandic epilepsy, infant myoclonic epilepsy, Sandifer syndrome (head tilt like torticollis, gastroesophageal reflux, episodes of opisthotonus, which can be mistaken for spasms).

Interictal (interictal) EEG is characterized by the presence of disorganized, chaotic, dynamically changing spike-wave activity, both during wakefulness and during sleep. Polysomnography can reveal the absence of spike activity during deep stages of sleep. Hypsarrhythmia is recorded in 66% of cases, usually in the early stages. Later, some organization of the chaotic EEG pattern is observed, and at the age of 2-4 years it transitions to the “acute-slow wave” complexes. The most common ictal EEG pattern (i.e., the EEG rhythm during the period of spasms) is generalized slow-wave complexes of high amplitude followed by suppression of activity for at least 1 sec. When recording focal changes on the EEG, you should think about focal nature brain damage or the presence of abnormalities in its structure.

A CT scan of the brain in children with West syndrome may reveal diffuse or focal changes cerebral structures, but may be within normal limits. In diagnosing local lesions, MRI of the brain is a more sensitive method. To identify areas of hypometabolism in brain tissue, in some cases it is possible to perform a PET scan of the brain.

Treatment of West syndrome

West syndrome was considered resistant to therapy until the discovery in 1958 of the effect of ACTH drugs on attacks. Therapy with ACTH and prednisolone leads to a significant improvement or complete cessation of infantile spasms, which is accompanied by the disappearance of the hypsarrhythmic EEG pattern. Until now, there are no clear decisions among neurologists regarding the doses and duration of steroid therapy. Studies have shown that in 90% of cases therapeutic success was achieved with the use of large dosages of ACTH. The duration of therapy can vary between 2-6 weeks.

A new stage in the treatment of infantile spasms began in the years. after detection of positive therapeutic effect vigabatrina. However, the benefit of treatment with vigabatrin has so far been proven only for patients with tuberous sclerosis. In other cases, studies have shown steroids to be more effective. On the other hand, steroid therapy has worse tolerability and a higher relapse rate than vigabatrin.

Of the anticonvulsants, only nitrazepam and valproic acid have been shown to be effective. In some patients, the therapeutic effect of large doses of vitamin B6 has been described, which was noted in the first weeks of therapy. In case of infantile spasms, resistant to therapy, with the presence of a pathological focus confirmed on tomography, consultation with a neurosurgeon is indicated to resolve the issue of resection of the focus. If such an operation is impossible, then in the presence of drop attacks, a total callosotomy (intersection of the corpus callosum) is performed.

West syndrome prognosis

Typically, by the age of 3, regression and disappearance of infantile spasms are observed. But in approximately 55-60% of cases they transform into another form of epilepsy, most often Lennox-Gastaut syndrome. Pharmacoresistance is often observed in infantile spasms accompanying Down syndrome. Even with successful relief of paroxysms, West syndrome has an unsatisfactory prognosis in terms of the psychomotor development of the child. Possible cognitive and behavioral disorders, cerebral palsy, autism, learning difficulties. Residual psychomotor deficit is not observed only in 5-12% of cases. Mental retardation is observed in 70-78% of children, movement disorders - in 50%. West syndrome, caused by abnormalities or degenerative changes in the brain, has a serious prognosis. In this case, the mortality rate can reach 25%.

Cryptogenic and idiopathic syndrome Vesta in the absence of mental retardation until spasms appear. In this group of patients, there is no residual intellectual or neurological deficit in 37-44% of children. Delaying the start of treatment has an adverse effect on the prognosis of the disease. Prognostic assessment is complicated by the fact that long-term consequences also depend on the underlying pathology against which symptomatic West syndrome occurs.

Signs and treatment of West syndrome in children

Epilepsy manifests itself in various forms and occurs mainly in children. West syndrome is considered one of its types and is diagnosed mainly before 12 months. The disease belongs to the group of non-inflammatory brain pathologies (epileptic encephalopathy) and is characterized by infantile seizures. They are spasms in which the torso is pulled forward, and the lower and upper limbs involuntarily bend and straighten. In addition to a convulsive seizure, one can distinguish a disorder of consciousness, autonomic disorders, freezing in one place, etc.

After the diagnosis, a course of therapy is usually selected that is virtually identical to the treatment of a simple form of epilepsy. In severe cases, surgery is required to save the baby's life.

Features of the pathology

The disease is named after the English doctor who diagnosed it in his son. West syndrome is manifested (discovered) mainly in infants and is characterized by paroxysms (intensification of existing disorders) and regularly recurring individual spasms, called infantile.

In the first years of study, this disease was classified as generalized epilepsy and was not considered an independent pathological process. Over time, it has been proven that West syndrome is a separate species diseases. It became possible to draw this conclusion due to improvements in equipment (CT, MRI, PET) for neuroimaging. Scientists identified foci of damage in the brain and classified this disease as a group of epileptic encephalopathies. Over the years, experts have proven the evolution of West disease into Gastaut syndrome.

Today, this pathology is very rare and, according to statistics, only 2% of all children suffering from epilepsy suffer from it. Boys are more likely to suffer from this disease and it is diagnosed around 4-6 months. By the age of 3, the pathology develops into other types of epilepsy.

Causes

West's disease has many causes and the most common among them are:

• Infections acquired during fetal development, for example, herpes or cytomegaly;
• Fetal hypoxia (lack of oxygen);
• Postpartum encephalitis;
• Childbirth that began prematurely;
• Head injury sustained in the womb or at birth;
• Asphyxia;
• Poor circulation due to late clamping of the umbilical cord.

Sometimes this disease is a consequence of abnormalities in the brain, namely:

• Not fully formed corpus callosum(agenesis);
• One hemisphere is larger than the other;
• Improperly developed septa (septal dysplasia).

Convulsions in West syndrome occur predominantly as a sign of the following pathological processes:

• Phakomatoses, which are hereditary diseases like tuberous sclerosis;
• Gene mutations;
• Chromosomal rearrangements, as in Down syndrome;
• Phenylketonuria.

In approximately 10-16% of cases, the cause of the pathology cannot be found or is difficult to prove. Usually in such a situation you can trace genetic predisposition, that is, in the family of the sick child there were people suffering from epilepsy.

Sometimes a factor influencing the development of pathology is DTP vaccine. This abbreviation stands for adsorbed pertussis-diphtheria-tetanus vaccine and is given approximately at the same time period in which the disease occurs. However, doctors were unable to prove the guilt of vaccination, nor to exclude it from the list of causes.

There are several other theories about the occurrence of infantile spasms:

• Scientists associate them with malfunctions of serotonergic neurons. This disease is characterized by a reduced concentration of serotonin, but whether this phenomenon can be considered primary or whether it is only a consequence of the disease is not yet known;
• There are supporters of such a reason as a failure in immune system. After all, patients have an increased number of beta cells;
• Due to the good effect of treatment with adrenocorticotropic hormone (ACTH), a version has emerged among experts about disruptions in the interaction between the brain and the adrenal glands;
• There is a version that the disease is based on a large concentration of synapses, as well as conducting collaterals, due to which the cerebral cortex is excited;
• The lack of synchrony shown by the electroencephalogram (EEG) is usually associated with a lack of myelin (the surface layer of axons). For babies, this phenomenon is quite normal and as the brain develops, the process of myelination continues, which is why West disease is transformed into Gastaut syndrome. It is a form of generalized epilepsy.

Symptoms

The first manifestation of West's disease is considered to be myoclonic convulsions, which gradually develop into tonic ones. The first type is characterized by short-term spasms, while the second is a longer-term muscle tension. Babies usually do not lose consciousness during the next attack, but if they are repeated often enough, the baby may fall asleep. Such sleep is quite deep and the child does not wake up immediately.

Mostly cramps are observed immediately after or before bedtime. However, doctors cannot say for sure whether there is a relationship between such attacks and the time of day. The same applies to light, but it is known that spasms are often triggered by tactile stimulation or loud noise.

Cramps are divided into different types depending on which part of the body is affected, namely:

• Flexion. Convulsions of this type concern muscle tissue neck and arms. They manifest themselves in the form of flexion of the upper limbs and shaking of the head. Sometimes the entire body bends forward, which is why this type of attack is called salam from the word salam. In the east it means greeting and people perform it by standing in a similar position;
• Extensor. This type of spasm is characterized by a sharp extension of the upper and lower limbs. During an attack, the baby spreads his arms to the side and unclenches his hands;
• Spasms in the back of the head. They represent multiple extension movements neck muscles with the head thrown back. Usually one spasm lasts a second, and then goes on for 2-3 seconds. break and everything repeats again.

Children often experience several types of spasms at once, for example, flexion and extension. Together with them, the eyes begin to twitch, and sometimes nystagmus occurs. They represent vibrations of the eyeballs, and their frequency can be movements per minute.

Types of seizures in general are not related to the cause of the disease and do not affect its course. In fact, in half of the cases they arise chaotically and can appear either as a whole series or in the singular. There can be up to 15 or more such convulsive cycles per day, and each of them consists of a certain number of attacks (20-40). They last about 2 seconds, and the seizure is usually preceded by screaming or a feeling of anxiety. After an attack, children want to sleep and feel weak. Sometimes cramps do not appear, and instead the baby suddenly freezes in one place. This phenomenon lasts 2-3 minutes, and then the child continues to move. Autonomic symptoms are often observed in conjunction with seizures, and one of the most common signs is respiratory distress. In second place are disruptions in heart rhythm.

On the background frequent attacks impairment of psychomotor development (a combination of speech and adaptation skills) is manifested. Because of this, the baby begins to lag behind his peers. All symptoms characteristic of West syndrome appear depending on the nature of the underlying disease, but initially they are usually mild. Because of this, diagnosing the disease is difficult, but most often the following signs of the disease can be found in the baby:

• Low blood pressure for a long time;
• Loss of the grasping reflex;
• Lack of fixed gaze.

On the electroencephalogram, you can see hypsarrhythmia, which is the main symptom of West syndrome along with psychomotor impairment and infantile spasms. It presents as intermittent high activity with synchronization failures and a spiking component. Scientists have divided hypsarrhythmia into typical and atypical, and each of them has 2 forms:

• Structural. It occurs only in the presence of anomalies in the structure of the cerebral cortex;
• Functional. It refers to cases where the cause of the pathology cannot be found.

During diagnostic imaging, doctors often find signs of brain damage. The most common among them are:

• Developmental anomalies;
• Tissue atrophy;
• Tuberous sclerosis;
• Damage from perinatal encephalopathy.

Course of therapy

In such a pathological process, the symptoms intensify over time, which is why the child may remain disabled for life or die. That is why it is important to treat West syndrome as soon as possible. This can be done with medications such as adrenocorticotropic hormone and drugs based on valproic acid, for example, Valproate. If ACTH does not give the desired effect, then glucocorticosteroids (GCS) are used and Dexamethosone is most often prescribed from this group. Treatment with hormones must be combined with drugs against epilepsy for the best effect.

According to experts, the course of therapy will also need to include the following medications:

The course of treatment must be carried out under the strict supervision of a doctor, and with hormonal therapy the child is admitted to hospital. An EEG will be required periodically to monitor the effectiveness of medications taken. Experts recommend checking that among the prescribed tablets there are no drugs that have a stimulating effect on the nervous system. It is advisable to introduce drugs into the course of treatment to improve metabolic processes, as they reduce the frequency of attacks and stimulate mental development.

If there is a tumor in the brain that causes the disease to worsen, then surgical intervention may be required. This method is used in extreme cases, since it carries a great risk to the child’s life. Brain tissue at this age regenerates much better than in adults, but the operation itself is quite difficult.

Doctors strongly recommend that parents consult a doctor about caring for sick children. After all, even if this disease is stopped, its consequences will still remain, and these include psychomotor delay, which is extremely difficult to eliminate.

Forecast

West syndrome often has disappointing forecasts. It is possible to cure a baby, but only if you start therapy from the first weeks of the development of the pathology. Achieved positive result mainly with an unknown cause of the disease (cryptogenic). If it is a complication of another pathological process or injury, then most often it remains serious consequences associated with psychomotor dysfunction.

In more than half of the children, taking medications against epilepsy completely stopped seizures. Doctors even describe several cases of self-limitation of spasms. Unfortunately, every 2 children have consequences from West syndrome, and mental retardation along with motor impairments are the most common. Sometimes the disease transforms into Gastaut syndrome and its course worsens.

Fatalities in the first 12 months of life are 15-25%, and if therapy is not started in a timely manner, the attacks of spasms worsen. Because of this, children have an increased chance of becoming disabled, and the effectiveness of treatment will decrease.

West syndrome is serious illness, occurring in infants under 1 year of age and is a type of epilepsy. It is characterized by severe salamova spasms and a high percentage of disability. Avoiding such a fate is extremely difficult and to do this, treatment should begin in the first days after the onset of symptoms of the disease.

West syndrome

West syndrome (West) is an age-dependent epileptic syndrome belonging to the group of infantile epileptic encephalopathies (non-inflammatory diseases of the brain). This disease was first described by the English doctor W. J. West, who observed it in his son. Epilepsy is a chronic progressive disease manifested by paroxysmal (paroxysmal) disorders of consciousness, attacks of convulsions, freezing, vegetative paroxysms (changes in breathing, pulse, vascular tone, etc.), as well as increasing changes in the emotional and mental sphere, recorded in the interictal period. period. Epilepsy causes specific changes in the electroencephalogram (EEG), a graphical representation of the electrical activity of the brain. This is where the main triad of symptoms in West syndrome comes from:

• attacks of the “infantile spasms” type;
• developmental delay;
• hypsarrhythmia on EEG.

West syndrome occurs in 1.6–4.2 per 10 thousand newborns and accounts for 2–9% of all cases of epilepsy in children. Boys are more often affected (60%). In 85% of cases, the following diseases are additionally identified: brain malformations (30%), tuberous sclerosis (12–16%), hypoxic-ischemic encephalopathy (up to 15%), hereditary metabolic defects (6–10%), chromosomal abnormalities ( 4%), other factors (intrauterine infections, tumors and other changes). Thus, the most common form syndrome – symptomatic, i.e. accompanying another disease. The cryptogenic form – the cause of the condition is unknown or not obvious – is diagnosed in 11–12%. Familial cases account for 3–4%. The onset of the disease is in the 1st year of life with a peak at 3–7 months (77% of patients).

Signs of West syndrome

Most often, the first sign of West syndrome is the appearance in children after several months of seemingly normal development myoclonic and/or tonic seizures. Myoclonic convulsions are short-term, serial, small, often symmetrical twitching of the muscles of the limbs, torso, and face. They can gradually turn into tonic, i.e., prolonged muscle contractions. Seizures in children with West syndrome are usually not accompanied by loss of consciousness, however, prolonged and frequent seizures lead to the child falling into deep sleep. More often, spasms are observed immediately after waking up and during the period of falling asleep, but they do not have a clear connection with the time of day and lighting. Seizures can be triggered by tactile stimuli or sudden loud noises.

Depending on which muscle group is involved in the process, as well as on the degree of its prevalence, the following types of cramps may occur:

• Nodding or flexion (otherwise known as Salaam cramps), in which the muscles of the upper limbs and neck are involved. They manifest themselves in the form of shaking the head back and forth, bending the arms (oriental greeting pose). There may be a common option with bending the entire torso.
• Extensor - sudden extension of the limbs, reminiscent of the Moro reflex. The child spreads his arms to the sides and unclenches his fists.
• Neck cramps - a series of extension movements of the neck with throwing back of the head ( average duration series - 10 seconds with a break between them of several seconds).

In addition, mixed flexion-extension spasms are observed; the process may be limited by short vertical twitching of the eyeballs or their movements like nystagmus. The type of seizures does not depend on the cause of the syndrome and does not affect the prognosis of the disease. In 40% of cases the attacks are asymmetrical; may be serial or, rarely, single in nature. Frequency of up to 10 or more episodes per day, in a series of attacks. The duration of a single attack is up to 2 s. Before the attack - fear, scream. After the attack - lethargy, sleep. Also, one of the variants of an attack is a sudden stop in behavioral activity, “freezing,” which is not accompanied by spasms. The manifestation of autonomic symptoms accompanying the attack is possible, among which breathing disorders are the most common phenomenon, in contrast to changes in heart rate.

Soon after the onset of seizures, and sometimes even before them, signs of delayed psychomotor development appear. In most cases, the sequence of occurrence of these symptoms depends on whether West syndrome is a symptomatic manifestation of another disease (developmental delay is detected before the onset of convulsive syndrome) or is of a cryptogenic nature. Besides, in initial period disease, the delay can be expressed insignificantly, which makes its diagnosis difficult. Axial hypotonia and “loss” of the grasping reflex are often observed. Absence of gaze fixation and pursuit eye movements is a poor prognostic criterion.

On the EEG, a characteristic manifestation of West syndrome is hypsarrhythmia - diffuse irregular high-amplitude activity with impaired synchronization and a spike component. N. Gastaut identified typical and atypical form hypsarrhythmias, each of which is divided into functional (characteristic of the cryptogenic nature of the disease) and structural (appearing in the presence of structural changes in the cerebral cortex).

When performing neuroimaging (using CT - computed tomography, MRI - magnetic resonance imaging, PET - positron emission tomography, etc.) it is possible to identify signs of organic brain damage: developmental defects, diffuse atrophy of structures, consequences of perinatal encephalopathy, tuberous sclerosis and other changes.

Treatment

Given the continuous progression of symptoms, especially in the psychomotor area, treatment should be prescribed as early as possible. The drugs of choice in the treatment of West syndrome are adrenocorticotropic hormone (ACTH) and valproic acid derivatives (valproates). If ACTH is ineffective, it is possible to prescribe glucocorticosteroids (GCS), for example, prednisolone, dexamethasone; Benzodiazepines (nitrazepam, clonazepam), vigabatrin, immunoglobulins (for example, Octagam), and in some cases high doses of pyridoxal phosphate (vitamin B6) are also effective in treating the disease. Hormonal therapy is prescribed in combination with basic antiepileptic drugs. Treatment should be carried out under the supervision of a neurologist, and when using hormonal drugs, in a hospital setting. In addition, constant monitoring of the state of metabolic processes in the body and EEG control is necessary. When prescribing symptomatic therapy, drugs with stimulant effects that lower the threshold of convulsive brain activity should be avoided. At the same time, the use of drugs in the treatment that improve metabolic processes in brain tissue helps eliminate attacks and has a positive impact on the mental development of children.

If the child has an organic substrate (for example, tuberous sclerosis, tumor), the issue of surgical treatment is decided. This method treatment is associated with serious risks to the life and health of the child, which limits its use to strict indications.

It is important to pay attention to the correction of delayed psychomotor development in children, which, even with successful relief of convulsive syndrome, is often sustainable. It is necessary to conduct explanatory conversations with the children’s relatives and teach them the rules of caring for children with this pathology. Only A complex approach to treatment allows us to hope for achieving clinically and prognostically significant results.

Prognosis for West syndrome

With this pathology in children, the prognosis is always serious. Only timely treatment started in the first weeks from the onset of the disease can lead to a complete recovery of the child. Moreover, similar results are likely with the cryptogenic form of the disease, while the symptomatic form, as a rule, leaves behind serious violations in psychomotor development. Thus, the prognosis and effectiveness of treatment are taken into account in each specific case based on the cause of the disease. In approximately 60% of children, modern antiepileptic drugs can stop seizures; cases of their spontaneous cessation have also been described, however, in most cases, after suffering from West syndrome, severe intellectual impairment remains, and motor disorders persist in almost half of the patients. In addition, there are frequent cases of the disease evolving, for example, into Lennox-Gastaut syndrome or multifocal epilepsy. Mortality with the syndrome in the first year of life reaches 20%. Untimely discontinuation of therapy, as well as late initiation of treatment in most cases leads to the occurrence of repeated seizures, severe psychomotor disorders in children, and sometimes to treatment-resistant, severe form of epilepsy.

Sindrom.guru

Sindrom.guru

Unfortunately, children are most often exposed to various diseases. Sometimes this happens due to the negligence of doctors, sometimes due to injuries or hereditary pathologies. You need to monitor the health of the little man from his first breath, because if you do not notice the symptoms of West syndrome (West syndrome) in time, the consequences will be irreversible. And if your baby starts having frequent seizures, do not resort to traditional medicine, but immediately consult a doctor. You need to immediately understand what West syndrome is, what seizures are, and how to help your child so that his life in the future is normal and healthy.

West syndrome - what is it?

West syndrome in children manifests itself at an early age, but no later than four years. This rare form of epilepsy was first described by a doctor who observed his son's symptoms, and his work allowed the medical world to study the disease, so it is not the final verdict today. Children born with disabilities or injured after birth are at risk for this syndrome.

West syndrome (West) is an age-dependent epileptic syndrome belonging to the group of infantile epileptic encephalopathies (non-inflammatory diseases of the brain)

The following factors can provoke it:

• birth injuries;
• hypoxia during fetal development, during childbirth;
• infections inside the womb;
• congenital malformations of the brain;
• postnatal ischemia;
• encephalopathy;
• asphyxia;
• abnormalities at the genetic level;
• tuberous sclerosis;
• meningitis;
• neurofibromatosis;
• tumors;
• poor metabolism;
• heredity.

An experienced doctor will immediately identify a predisposition to West syndrome.

West syndrome: signs

The first symptom may be the baby's constant crying, but at this age the cause may be colic, so you should be wary if the child has:

Most often, the first sign of West syndrome is the appearance of myoclonic and/or tonic seizures in children.

• problems with fixing his gaze (he does not look at you or at any objects around him);
• muscle flaccidity;
• lack of psychomotor development;
• spasms are present.

In rare cases, against this background, cerebellar syndrome may appear, which is characterized by trembling of the fingers, dizziness, flabbiness and lethargy of the muscles, difficulty in performing complex and fast movements.

Children with this pathology are developmentally delayed, so if treatment is not started in time, this problem will haunt the child throughout his life.

Forms of the syndrome

West syndrome is one of the severe forms of epilepsy, so its most characteristic symptom is spasms.

1. Myoclonic. Small and infrequent twitches individual parts body, face or torso.
2. Tonic convulsions grow out of myoclonic ones after some time. With them, the muscles contract more often and for longer. The baby can nod his head, fold himself in half, shrug his shoulders and bend/extend his arms.

These seizures can be triggered by touch, loud noises, while waking up or falling asleep, or by light stimulation, as in normal epilepsy. The attacks are serial in nature, the interval between them does not exceed 1 minute. During spasms, the child may suddenly fall, and after it becomes sleepy and lethargic, immediately falls asleep.

Seizures may be triggered by tactile stimuli or sudden loud noises

Doctors also note three variations of the syndrome, which differ in the nature and level of damage to muscle tissue:

• cramps of the back of the head (the head is thrown back in short series and intervals);
• nodding cramps of the hands;
• spasms of the whole body: in this position, the arms are pulled behind the back or thrown to the sides, and the head is bowed forward.

Why do spasms occur? Due to poor communication between the cortex and brainstem, communication between the brain and the adrenal glands is disrupted. As a result, the hypothalamus produces excess amounts of corticoliberin. This hormone in large quantities provokes muscle spasms.

Diagnosis and treatment

At the first signs, you need to show the child to a pediatrician and a neurologist so that he can schedule consultations with different doctors. After the examination, you will have to undergo a number of doctors and examinations in order to make an accurate diagnosis, since West syndrome has many common symptoms with various childhood diseases.

The disease quickly progresses from the myoclonic to the tonic stage, so it is necessary to provide the baby with adequate and rapid treatment. It includes:

• hormonal therapy;
• surgery if the cause of the syndrome is a tumor or tuberculous sclerosis;
• drugs that improve brain activity;
• antiepileptic drugs.

Treatment should be carried out under the supervision of a neurologist, when using hormonal drugs - in a hospital setting

Conversations are being held with parents, because they must understand how to care for their child during this difficult period. As was said, pathology inhibits psychomotor development, and treatment for it does not provide one hundred percent guarantees that the developmental delay will not be sustainable.

Treatment of children with West syndrome

If provided in a timely manner professional help good results can be achieved in more than half of the cases, but the success of therapy does not depend only on well-chosen medications and therapy. The causes of the disease, the form of the syndrome and the degree of brain damage play a major role in recovery.

The child is treated as an inpatient, and during this period, drug treatment is most effective. At the time West described this syndrome, there was no known cure for this pathology, and it was considered incurable. But in modern world There are a number of drugs that not only stop the disease, but can also prevent relapses.

Anticonvulsants reduce the number and intensity of spasms, these include:

In some cases, vitamin B may benefit the patient instead of anti-seizure medications.

Hormonal therapy is prescribed in combination with basic antiepileptic drugs

In addition to treating seizures, it is also necessary to focus on mental, physical and psycho-emotional development. This pathology inhibits psychomotor development, so doctors prescribe medications for children that normalize blood supply to the brain and improve metabolism. They should not be consumed alone as they may cause epileptic seizures due to brain stimulation.

Use of hormonal drugs

Everyone knows that steroid and hormonal treatment has many adverse reactions, including obesity, allergic reactions, depression and liver damage, so future treatment must be coordinated with a doctor who will describe the risks and prognosis, and also prescribe medications that improve liver function and strengthen the immune system.

Surgical intervention

Surgery is performed only when the brain is too damaged, the source of the disease cannot be identified or destroyed, or when drug treatment has been ineffective. During the operation, the neurosurgeon excises the pathology (the affected area of ​​the brain), removes tumors and aneurysms.

Rehabilitation after this operation is carried out in special centers and is considered very effective.

Predictions and prevention

If medical care was provided on time, the prognosis is very good. If treatment was not carried out in the first two months, then the chances of life are significantly reduced, so timely contact with a pediatrician is the main concern of parents. Sometimes West syndrome can disappear without drug treatment, or it can transform into more serious forms of epilepsy.

The prognosis is directly related to the form of the syndrome. In the idiopathic form (when there is no obvious cause of the pathology), the baby can be cured with virtually no harm to his mental abilities.

For the symptomatic form, the prognosis is much worse - the chance of life is 25% with the possibility of developmental consequences.

There is no way to prevent the pathology, but a pediatrician can identify the risk group and warn parents about the possibility of West syndrome.

A child with such a diagnosis can be born into any family - both a peasant and a president. And the likelihood of such a baby being born does not depend on the mother’s lifestyle or her health. A completely random failure during the union of male and female chromosomes during conception leads to the formation of an additional chromosome - the 47th - in the cells of the child’s body. Children with such a chromosome have a different rate of development and characteristic appearance than ordinary people.

What is Down syndrome called?

It should be noted that this is not a disease, but a set of certain genetic traits. Such a diagnosis can only be made by a doctor who uses a blood test to determine the presence of an extra chromosome. Down syndrome is a set of intellectual and physical symptoms that arise as a result of the formation in the body of an embryo in the 21st pair of chromosomes of an additional chromosome, the so-called chromosomal pathology. This syndrome was named after the English physician John Langdon Down, who was the first to describe the pathology, its signs and consequences for the fetus and its development in 1866. According to statistics, 1 in 700-800 children is affected by Down syndrome. Since Down syndrome is a problem associated solely with the set of chromosomes, there is currently no cure for it. There are certain therapies that help control the symptoms and medical consequences that occur in such people.

Let us remind you that children with Down syndrome have raised corners of the eyes, a flat face, a slightly smaller mouth than usual, and a slightly larger tongue. Some conditions are more common in people with Down syndrome, such as: congenital heart defects, some of which are serious and require surgery; defects in hearing and even more often in vision are common; thyroid diseases or colds often occur. People with Down syndrome typically have varying degrees of intellectual impairment.

What therapy is carried out

Therapy for people with Down syndrome may include:

• Regular examinations and fluoroscopy.
• Drug prevention.
• Surgical interventions.
• Psychological counseling and support.

Regular examinations and fluoroscopy People with Down syndrome have an increased risk of developing various diseases. They are most prone to such ailments as:

• Congenital heart defect;
• leukemia and other types of cancer;
• problems with the immune system;
• thyroid diseases;
• problems related to bones, muscles and nerve endings;
• hearing problems;
• vision problems;
• epilepsy;
• developmental delay;
• oligophrenia (mental retardation);
• premature aging;
• Alzheimer's disease.

Due to all of the above diseases and their complications, people with Down syndrome have an increased risk of premature death. Regular checkups are very important. Visits to the doctor can ensure timely identification of the disease and, if necessary, its treatment. The doctor can also schedule a mandatory fluoroscopy, which can help identify the problem before symptoms appear. For the medicinal treatment of some consequences, only certain drugs can be used (prescribed exclusively by a doctor). But it is the syndrome that cannot be treated. Until today, not a single medicine has been found that can cure Down syndrome as a whole.

Surgical interventions for Down syndrome

Some conditions that occur in people with the syndrome require surgery. For example, about half of children suffering from this syndrome have congenital heart disease and pulmonary hypertension (increased pressure in the lungs). Associated congenital heart problems in people with Down syndrome include:

• Fallot's syndrome (blue type congenital heart defect);
• patent ductus arteriosus;
• atrial septal defect;
• ventricular septal defect of the heart.

If heart disease is identified before the onset of pulmonary hypertension, surgery will provide favorable results and help, if not cure, then slow the progression of heart disease. In addition, on average, 3% of children with Down syndrome develop cataracts, which are easily removed with surgery.

Psychological support

Counseling for people with Down syndrome and parents whose children are affected has been shown to be very helpful. Psychological support for people with Down syndrome is no less important, as it helps them adapt to society. It is also very important to study as much as possible about Down syndrome and the consequences it leads to. People need to understand the specifics of this disease, know how to behave with such people and how to help them.