Mechanisms of development of Louis Bar syndrome. Successful treatment of rare diseases is guaranteed by the leading specialists of the Top Assuta clinic

In Israel, doctors successfully treat even quite rare diseases such as Crouzon syndrome, Marshall syndrome, Louis Bar syndrome or Apert syndrome. The Top Assuta clinic has assembled qualified medical personnel who fully possess the specific knowledge and skills necessary for the effective treatment of these diseases.

Crouzon syndrome (craniosynostosis) – treatment in Israel

This disease is a genetic anomaly: it is manifested by severe deformation of the facial and cerebral region of the skull. The disease is diagnosed by examining the skull; to accurately confirm the diagnosis, the patient is prescribed a CT scan, as well as X-rays of the head and neck.

Treatment of cranial deformation at the Top Assuta clinic is carried out using cranioplasty, during which the surgeon cuts the connections between parts of the skull - as a result, the volume increases and the shape of the skull changes.

How is Marshall syndrome treated in Israel?

Marshall syndrome (another name is PFAPA syndrome) is a periodic attack of febrile fever complicated by aphthous stomatitis, pharyngitis, and inflammation of the cervical lymph nodes. Its main symptoms are sudden fever, severe chills and high temperature (38-40.5 ° C). The patient has a sore throat, the mucous membrane of the mouth and pharynx is inflamed.

Marshall syndrome in Israel is diagnosed based on the results of a physical examination and a general blood test. Treatment is based on medications, in particular glucocorticoids. The symptoms of Marshall syndrome can be significantly alleviated with the help of prednisolone and betamethasone.

Louis Bar syndrome - why this disease should be treated in Israel

Louis Bar syndrome (ataxia-telangiectasia) is a rare immunodeficiency disease that affects different systems of the body. The first symptoms—impaired balance and speech (ataxia)—appear already in the second year of life; subsequently, the disease leads to a complete loss of muscle control and, accordingly, to disability. One of its obvious symptoms is telangiectasia - visible dilation of capillaries on the membrane of the eyeball, on the face and earlobes.

Early diagnosis of Louis Bar syndrome is carried out using extensive cytogenetic studies - this area is developing at an incredibly rapid pace in Israel. Doctors specializing in cytogenetics regularly improve their skills, and they have powerful and highly accurate medical equipment at their disposal.

Treatment methods for ataxia and telangiectasia are aimed at alleviating the symptoms of the disease as they appear - for this, Top Assuta uses physiotherapy, classes with a speech therapist, vitamin therapy in high doses, and treatment with gamma globulin.

Treatment of Apert syndrome in Israel

This disease is caused by a genetic mutation, which disrupts the proper formation of bone and connective tissue. The main symptom is an abnormal deformation of the skull in general and the maxillofacial region in particular. Another manifestation of the disease can be syndactyly - fused bones on the fingers and toes.

To confirm Apert syndrome, special genetic tests are used in Israel.

This disease is treated surgically:

• remodeling cranioplasty – surgeons disconnect incorrectly fused skull bones and perform their partial reposition;
• correction of the facial region – during the operation the anatomically correct shape of the face is restored;
• correction of ocular hypertelorism - the surgeon expands the root of the nose, which allows reducing the too large distance between the eyeballs.

Diagnostics at the Top Assuta clinic

The entire diagnostic process takes a maximum of four days.

Day 1 – consultation

The patient is sent for examination to a leading specialist, who conducts a general examination, studies the medical history and draws up a plan for further diagnostic procedures.

Days 2 and 3 – research

Depending on the specifics of the disease, studies include:

• radiography;
• genetic tests;
• laboratory blood tests.

Day 4 – development of a detailed treatment plan

After receiving the diagnostic results, doctors at the consultation decide on an individual treatment plan.

Cost of treatment

At the Israeli Top Assuta clinic, you are guaranteed to receive the best medical care at an affordable price, which is 35-50% lower than in Germany and the USA. There is no prepayment - here you pay for each procedure only after it is completed.

Benefits of treating rare diseases at the Top Assuta Medical Center

• Optimal ratio of cost and quality of all medical and diagnostic procedures.
• Highly qualified specialists are true professionals in their field.
• Excellent technical equipment of the clinic.
• Individual treatment plan for each patient.
• Operations that cause minimal trauma to the body.

(ataxia-telangiectasia) is a hereditary disease manifested by cerebellar ataxia, telangiectasia of the skin and conjunctiva of the eyes, and insufficiency of the T-cell component of immunity. The latter leads to the fact that Louis-Bar syndrome is accompanied by frequent respiratory infections and a tendency to develop malignant tumors. Louis-Bar syndrome is diagnosed based on the history and clinical picture of the disease, immunogram data, the results of an ophthalmological and otolaryngological examination, MRI of the brain and radiography of the lungs. Currently, Louis-Bar syndrome has no specific and effective treatment.

General information

Louis-Bar syndrome was first described in 1941 in France. There is no exact data on the frequency with which Louis-Bar syndrome occurs among the modern population. According to some reports, this figure is 1 case in 40 thousand newborns. However, it must be taken into account that in case of death in early childhood, Louis-Bar syndrome usually remains undiagnosed. It is known that the disease equally often affects boys and girls. In neurology, Louis-Bar syndrome refers to the so-called phacomotosis - genetically determined combined lesions of the skin and nervous system. This group also includes Recklinghausen neurofibromatosis, Sturge-Weber angiomatosis, tuberous sclerosis, etc.

Causes and pathogenesis of Louis-Bar syndrome

The pathological changes accompanying Louis-Bar syndrome are based on genetic disorders leading to the development of congenital neuroectodermal dysplasia. Louis-Bar syndrome is an autosomal recessive disease, that is, it manifests itself clinically only when receiving a recessive gene from both parents.

Morphologically, ataxia-telangiectasia is characterized by degenerative changes in cerebellar tissue, in particular the loss of granule cells and Purkinje cells. Degenerative changes can affect the dentate nucleus of the cerebellum (nucleus dentatus), the substantia nigra and some parts of the cerebral cortex, and sometimes the spinocerebellar tract and posterior columns of the spinal cord are affected.

Louis-Bar syndrome is combined with hypoplasia or aplasia of the thymus, as well as congenital deficiency of IgA and IgE. These disorders in the immune system lead to the appearance of frequent infectious diseases in patients, which are prone to long-term and complicated courses. In addition, immune disorders can potentiate the development of malignant neoplasms, often originating in the structures of the lymphoreticular system.

Clinical manifestations of Louis-Bar syndrome

Ataxia. Most often, Louis-Bar syndrome begins to manifest itself clinically between the ages of 5 months and 3 years. In all cases of the disease, Louis-Bar syndrome manifests itself with the appearance of cerebellar ataxia, the signs of which become obvious when the child begins to walk. There are disturbances in balance and gait, trembling during motor acts (intention tremor), swaying of the torso and head. Often the ataxia is so severe that a patient with Louis-Bar syndrome cannot walk. Cerebellar ataxia is combined with cerebellar dysarthria, characterized by slurred scanned speech. There is muscle hypotonia, decreased or complete disappearance of tendon reflexes, nystagmus, oculomotor disturbances and strabismus.

Telangiectasia. In most cases, the appearance of telangiectasia accompanying Louis-Bar syndrome occurs between the ages of 3 and 6 years. In some cases, their occurrence is noted in a later period and very rarely during the first month of life. Telangiectasia (spider veins) are reddish or pink spots or branches of various shapes. They are caused by the expansion of small blood vessels in the skin. It should be noted that telangiectasia can be a manifestation of many other diseases (for example, rosacea, SLE, dermatomyositis, xeroderma pigmentosum, chronic radiation dermatitis, mastocytosis, etc.). However, in combination with ataxia, they give a clinical picture specific to Louis-Bar syndrome.

Louis-Bar syndrome is characterized by the initial appearance of telangiectasia on the conjunctiva of the eyeball, where they have the appearance of “spiders”. Then spider veins appear on the skin of the eyelids, nose, face and neck, elbows and knees, forearms, dorsum of the feet and hands. Telangiectasia can also be observed on the mucous membrane of the soft and hard palate. Spider veins are most pronounced in those areas of the skin where it is exposed to sunlight. First of all, this is the face, where telangiectasias form entire “bundles”. At the same time, the skin loses its elasticity and becomes dense, which resembles the changes typical of scleroderma.

Skin manifestations of ataxia-telangiectasia may include the appearance of freckles and café-au-lait spots, and areas of discolored skin. The presence of hypo- and hyperpigmentation makes the skin symptoms of Louis-Bar syndrome similar to the clinical picture of poikiloderma. Many patients experience dry skin and areas of hyperkeratosis. Hypertrichosis, early graying of hair, skin elements resembling acne or manifestations of psoriasis may be observed.

Respiratory tract infections. Characterizing Louis-Bar syndrome, damage to the immune system leads to frequent recurrent infections of the respiratory tract and ear: chronic rhinitis, pharyngitis, bronchitis, pneumonia, otitis, sinusitis. Their features are: blurred boundaries between the periods of exacerbation and remission, paucity of physical data, poor sensitivity to antibacterial therapy and a long course. Each such infection can become deadly for a patient with ataxia-telangiectasia. Frequent lung diseases lead to the development of bronchiectasis and pneumosclerosis.

Malignant neoplasms. Among patients with Louis-Bar syndrome, malignant tumor processes are observed 1000 times more often than the average population. The most common among these are leukemia and lymphoma. A feature of oncopathology in the case of Louis-Bar syndrome is the increased sensitivity of patients to the effects of ionizing radiation, which completely excludes the use of radiation therapy in their treatment.

Diagnosis of Louis-Bar syndrome

Making a diagnosis of ataxia-telangiectasia requires an integrated approach that takes into account the history of the disease, its clinical manifestations, data from immunological and instrumental studies, as well as the results of DNA diagnostics. A patient with suspected Louis-Bar syndrome should be examined not only by a neurologist, but also by a dermatologist. Using ultrasound, aplasia or hypoplasia of the thymus is diagnosed. MRI of the brain reveals cerebellar atrophy and dilatation of the fourth ventricle. X-ray of the lungs is necessary for diagnosing focal or lobar pneumonia, identifying foci of pneumosclerosis and bronchiectasis.

Louis-Bar syndrome should be differentiated from Friedreich's ataxia, Randu-Osler disease, Pierre-Marie ataxia, Hippel-Lindau disease, etc.

Treatment and prognosis of Louis-Bar syndrome

Unfortunately, effective methods for treating Louis-Bar syndrome still remain the subject of a search. In modern medicine, it is possible to use only palliative symptomatic treatment of somatic and immunological disorders. Extending the life of patients with Louis-Bar syndrome is facilitated by immunocorrective therapy with thymus preparations and gamma globulin, vitamin therapy in high dosages and intensive therapy of any infectious process. According to indications, antiviral drugs, broad-spectrum antibiotics, antifungals, and glucocorticosteroids are used.

Due to the lack of effective treatments, Louis-Bar syndrome has an unfavorable prognosis for both recovery and life. Patients with this disease rarely live past 20 years. In most cases, they die from infectious complications and cancer.

Louis Bar syndrome is not so common in medical practice, but, nevertheless, modern doctors are especially afraid of this disease. This is a hereditary disease associated with immunodeficiency, which is distributed exclusively in an autosomal recessive manner. During the pathological process, one of two lesions of the immune system predominates, in particular, cellular immunity suffers. Such losses in the body are irreparable, and providing the patient with a full life is sometimes simply unrealistic.

When discussing the pathogenesis of Louis Bar syndrome, it is worth noting that patients with this diagnosis are characterized by the absence of the thymus, as well as underdevelopment of the lymph nodes and spleen. In addition, the peripheral organs of the immune system are not fully formed, thereby causing a pathogenic effect on human resources from various microorganisms.

The reason for this pathology is obvious - a genetic imbalance, against the background of which neuroectodermal dysplasia predominates even in the prenatal period. Having an autosomal recessive origin, the characteristic disease is transmitted if a recessive gene is received from both parents at once.

Against the background of such an anomaly, degenerative changes in the cerebellum progress, which directly affect its dentate nucleus, substantia nigra and certain “links” of the cerebral cortex. Such a wide range of action simply cannot but be reflected at the genetic and molecular level, and a newborn is born with a terrible diagnosis.

The etiology of Louis Bar syndrome is also dominated by congenital deficiency of IgA and IgE, which entails an increase in infection of the body and prolonged treatment of the prevailing diseases. Immunity impaired at the genetic level is also fraught with the formation of malignant tumors and cancer cells. So detailed diagnosis and timely treatment of a small patient is extremely important.

Symptoms

As a rule, symptoms of Louis Bar syndrome begin to appear at the age of five months to three years, but deviations are especially noticeable when the baby begins to move independently, albeit not over long distances.

Thus, signs of ataxia on the face: a shaky and uncertain gait, impaired coordination of movements, tremors of the limbs, swaying of the body and frequent twitching of the head. The characteristic signs in the affected body are often so obvious that the patient is simply unable to move independently. In addition, there is impaired speech, lack of tendon reflexes, muscle hypotonia, strabismus and other abnormalities in the structure and functionality of the eyes.

With this disease, infectious diseases of the respiratory tract and ear of a recurrent nature very often progress. This can be chronic rhinitis, otitis media, pharyngitis, sinusitis, bronchitis, and, less commonly, pneumonia and pneumonia. However, it is important to understand that each subsequent relapse only worsens the general condition, hastening death.

Another eloquent symptom of Louis Bar syndrome is spider veins, which usually appear between 3 and 6 years of age. They are caused by pathogenic expansion of small capillaries, but may also indicate the presence of other diseases.

Telangiectasia begins on the eyeball in the form of trivial conjunctivitis, but very soon a characteristic visual defect predominates on the skin of the eyelids, neck, nose, face, elbows and back of the hand. Increased dryness of the skin, hyperemia, early hair loss and an increase in the number of vascular networks on the skin also predominate.

Louis Bar syndrome may be accompanied by the appearance of malignant neoplasms, represented by lymphoma and leukemia. However, it is advisable to study the clinic of these pathological processes on an individual basis.

Diagnostics

If a local physician suspects the presence of Louis Bar syndrome, he will refer him to a specialist. However, consulting with an immunologist is not at all enough, because you should also see a neurologist, dermatologist, ophthalmologist, pulmonologist, oncologist and otolaryngologist with your problem. It is extremely important to differentiate Louis-Bar syndrome from Rendu-Osler disease, Friedreich's attack, Pierre-Marie ataxia and, of course, the little studied Hippel-Lindau syndrome.

A neurologist will make the final diagnosis, but without detailed diagnostics it is impossible to do this. That is why it is imperative to undergo instrumental and laboratory tests to obtain a detailed clinical picture.

The most popular examination methods are presented below:

1. in a general blood test, a pathological decrease in the number of lymphocytes can be observed;
2. determining the level of blood immunoglobulins allows you to detect a decrease in IgA and IgE, as well as reliably determine the presence of autoantibodies to mitochondria, immunoglobulin and thyroglobulin;
3. Ultrasound helps characterize aplasia and hypoplasia of the thymus;
4. MRI of the brain to diagnose cerebellar degradation and pathogenic expansion of the fourth ventricle;
5. Radiography determines the presence of pneumonia, foci of pneumosclerosis, as well as the predominance of bronchiectasis changes.

When the neurologist has all the diagnostic results, as well as the preliminary conclusion of narrow specialists, he will finally decide on the final diagnosis and prescribe a specific treatment regimen.

Prevention

Preventive measures are not particularly effective, since the pathological process predominates during the direct formation of the embryo in the prenatal period.

The disease is inherited and predominates at the genetic level, so protecting your unborn child from a terrible fate is very problematic.

Doctors, when identifying a characteristic problem during one of the screenings during pregnancy, suggest that the expectant mother induce labor prematurely.

Treatment

Modern medicine has not yet discovered a panacea for this disease, and what can I say, doctors cannot even decide on a general treatment regimen. However, this clinical picture clearly requires an integrated approach.

1. A long course of antibacterial therapy is required, which allows you to quickly destroy secondary bacterial infections, as the main cause of immunodeficiency.
2. Along with taking antibiotics, a course of gamma globulins, immunostimulants, multivitamin complexes and even dietary supplements is also required for the overall strengthening of weakened human resources.
3. In childhood, physical therapy is required, which includes individual sessions with a speech therapist on speech production.

However, one way or another, therapy should be based on the underlying disease. If it is diabetes mellitus, then the treatment regimen cannot do without oral glucose-lowering drugs and insulin. If there is a rapidly progressing tumor, then immediate surgical removal is required. So when treating, it is important to take into account all the nuances, and then it will be truly effective.

How often we walk, perform many actions and don’t even think about how we manage to reproduce these movements with such ease and accuracy. It's all about a very complex mechanism in which various parts of the central nervous system are involved. Most people do not think that there may be any problems or difficulties with the usual maintenance of balance. However, there are a number of diseases that make it difficult to walk straight, stand, or even fully perform standard finger movements. In some patients with these symptoms, doctors diagnose ataxia.

What is ataxia in adults, pregnant women and children

Ataxia is a lack of coordination of movements. The name of the disease comes from the Greek word ataxia - disorder. Patients with this pathology may indeed experience chaotic movements both when walking and when trying to move their fingers, etc. The person begins to complain about the inability to maintain balance and the appearance of awkwardness and inaccuracy while performing any actions. Ataxia can develop at any age, including in young children. In pregnant women, the severity of the disease in some cases may increase, and then additional examinations and more careful monitoring of the functioning of the heart and respiratory system are required.

Coordination is a very delicate process that depends on the coordinated work of certain parts of the central nervous system: the cerebellum, the cortex of the temporal and frontal lobes, the vestibular apparatus and conductors of deep muscle sensitivity. If at least one link of this chain is damaged, a person experiences various disturbances in the coordination of movements of body parts.

Patients with ataxia have poor coordination of movements and sometimes find it difficult to maintain their body in a standing position.

In people with ataxia, there is a discrepancy in the actions of different muscles, which leads to the impossibility of full coordination. This causes many problems in everyday life, sometimes it becomes almost impossible to go outside and generally exist independently. Sometimes even strength in the upper and lower extremities decreases.

Video about coordination, ataxia and methods of its treatment

Classification of ataxias

Currently, there are several types of ataxia. They differ in causes and symptoms:

1. Sensitive (posterior columnar) ataxia appears with various disorders in the conductors of deep muscle sensitivity.
2. Cerebellar ataxia is the most common. It can develop due to various disorders, including genetic ones that are inherited. Cerebellar ataxia Pierre-Marie, benign ataxia Westphal-Leiden, ataxia-telangiectasia (Louis-Bar syndrome) are distinguished.
3. Vestibular ataxia begins due to damage to one of the departments of the apparatus of the same name.
4. Cortical, or frontal, ataxia develops with disorders in the temporal and frontal cortex of the brain.
5. Friedreich's familial ataxia progresses due to mixed cerebellar-sensory lesions.
6. Spinocerebellar ataxia is a hereditary disease in which multiple degenerative processes occur in the cerebellum, cortex, white matter and many other parts of the brain.
7. Hysterical (psychogenic) ataxia manifests itself in pretentious and unusual ways of walking. This is a separate species that is not associated with actual damage to brain structures.

There is also a classification according to the types of coordination disorders. If a person has difficulty maintaining balance while standing, they speak of static ataxia. When problems occur during movements and walking, dynamic ataxia is diagnosed.

Symptoms and causes of ataxia

Each type of ataxia must be considered separately, since the types of the disease differ greatly in the causes of its occurrence and the symptoms shown. Sometimes doctors need to conduct many examinations and examinations in order to accurately establish the localization of pathological processes and determine the type of ataxia.

Sensitive (posterior columnar) ataxia

This type of ataxia appears due to disturbances in the posterior columns of the spinal cord and nerves, the cortex in the parietal part of the brain. The conductors of deep muscle sensitivity are affected. Patients cease to fully feel and control muscles and joints, and the sense of mass, pressure and position of the body in space is also impaired. It is worth understanding that sensitive ataxia is not a separate disease and it manifests itself as one of the symptoms in all kinds of neurological diseases. The cause of this type of disorder can be benign and malignant neoplasms in the spinal cord, neurosyphilis, injuries and fractures of the spine, multiple sclerosis. In some cases, sensory ataxia may occur after unsuccessful brain surgery.

The symptoms in patients are very obvious; disturbances in coordination of movements are visible to the naked eye. A person cannot walk normally, he bends his knees too much or, conversely, weakly, and sometimes even tries to walk on straight legs. Since it becomes difficult for the patient to feel himself in space, he begins to strongly knock his heels on the floor when moving, because he is not aware of the real distance to the surface and his own body weight. Doctors call this gait “stamping.” The patients themselves say that they feel as if they are walking on a soft surface and falling through. To begin to control their gait, they have to constantly look at their feet. As soon as you look away, coordination disappears again. It also becomes difficult to take care of yourself at home, and fine motor skills are impaired. When the patient is at rest, his fingers may move involuntarily and sharply. In some cases, disorders may affect only the upper or only the lower extremities.

Cerebellar ataxia is one of the most common forms of coordination disorder. When a person sits or walks, he or she is found to lean towards the affected area of ​​the cerebellum. If the patient falls to any side and even backwards, then this is a characteristic symptom of a disorder in the cerebellar vermis. People complain about the inability to maintain a normal gait, because they stop assessing the correctness of their movements and feel how they move their legs. Patients feel very insecure, stagger, and place their feet wide apart. Visual control practically does not help maintain balance. Muscle tone may be significantly reduced, especially on the side where the lesions occurred in the cerebellum. In addition to gait disturbances, deviations in the pronunciation of words are also noted. Patients draw out syllables and pronounce phrases slowly. Also a characteristic symptom is sweeping and uneven handwriting.

Cerebellar ataxia can be a consequence of brain injury and a consequence of surgery. Also very often, such a disorder occurs in various types of encephalitis, multiple sclerosis, tumors in the brain, and damage to blood vessels in the spinal cord and cerebellum. Alcoholism and drug addiction can also be causes, in which the entire human body is exposed to serious toxic poisoning.

Cerebellar ataxia is classified according to the speed of its flow. The disease can be acute (symptoms appear in one day), subacute (symptoms increase over several weeks), chronic (ever progressive) and episodic.

Cerebellar ataxia of Pierre-Marie

This type of ataxia is hereditary. It occurs in a chronic form and constantly progresses. Usually the disease makes itself felt around the age of twenty, most often after thirty. Patients experience degenerative processes in the cerebellum and its conducting tissues. This disease is transmitted in an autosomal dominant manner. This means that children of both sexes can get sick if the defective gene is passed on from at least one of the parents.

Often, the appearance of Pierre-Marie's ataxia can be triggered by head trauma, certain infectious diseases (typhoid and typhus, dysentery, brucellosis, etc.) and even pregnancy. The symptoms of this pathology are very similar to ordinary cerebellar ataxia; they begin with slight disturbances in gait and strange shooting pains in the lower back and lower extremities. Subsequently, trembling of the hands occurs, and the facial muscles begin to contract involuntarily.

A characteristic symptom is visual impairment due to degenerative processes in the optic nerve. Some people begin to gradually develop drooping of the upper eyelid, and the visual field decreases. Patients also experience statistical ataxia, often experience depressive states and even a decrease in intelligence.

Cerebellar ataxia acute Leiden-Westphal

This type of ataxia occurs most often in young children after infectious diseases. This complication appears very quickly, and the course of the disease occurs in acute or subacute form. About two weeks after suffering from influenza, typhus, and some other diseases, the child begins to experience the first signs of damage to the cerebellar structures. Children lose control of coordination when standing and walking. The movements become very sweeping and disproportionate, but babies have difficulty feeling these changes. Also a common symptom is asynergia, in which it becomes impossible to correctly combine muscle movements.

Ataxia-telangiectasia (Louis-Bar syndrome)

This type of cerebellar ataxia is also hereditary. This disease manifests itself very early, with the first signs appearing in young children around the age of several months. In medicine, Louis-Bar syndrome is classified as a special subtype - phakomatosis - due to genetically determined degenerative processes in the nervous system and skin disorders. It is transmitted in an autosomal recessive manner, can be inherited from any parent and manifests itself in children of both sexes. For the disease to occur, mom and dad must be carriers of the defective gene. Fortunately, this is extremely rare and ataxia-telangiectasia occurs in only one child out of 40 thousand births.

Degenerative processes in the cerebellum and some other parts of the brain are combined with reduced immunity due to a lack of immunoglobulins A and E. Because of this, children often suffer from all kinds of infectious diseases and suffer from cancer, which usually affects the lymphatic system. A characteristic symptom, in combination with ataxia, is the appearance of spider veins (telangiectasia) of varying sizes throughout the body and even on the whites of the eyes.

Vestibular ataxia

The vestibular apparatus is responsible for human coordination and proper movement. Patients feel as if they were circling in one place around their axis for a long time. They stagger, do not maintain their body position well, their eyes twitch involuntarily and quickly, they become dizzy, and may feel nauseous. A characteristic feature is an increase in symptoms when turning the head, eyes and body. It is because of this that patients try to move as carefully, carefully and slowly as possible in order to have time to control changes in the body in space.

This type of ataxia can begin due to damage to any part of the vestibular apparatus, but most often, disorders of the hair cells are detected in the inner ear. These injuries can occur due to otitis media, ear trauma, or tumor formations. The vestibular nerve is also sometimes affected due to various infections and even the use of medications.

Cortical or frontal ataxia

Cortical ataxia begins due to lesions in the frontal lobe of the brain. The symptoms are similar to disorders of the cerebellar structures. Some, in addition to uncertainty when walking, experience astasia, in which it is impossible to stand, and abasia, when the patient is unable to walk. Visual control does not help maintain motor coordination. Characteristic symptoms are also revealed that indicate damage to the cortex in the frontal lobes: changes in the psyche, disturbances in the sense of smell, and a decrease in the grasping reflex. The cause of this type of ataxia is various inflammatory diseases, encephalitis, neoplasms in the brain and circulatory disorders.

Spinocerebellar ataxias

There is a whole complex of spinocerebellar ataxias, which are hereditary diseases. Currently, doctors identify more than twenty different species. All of them are transmitted in an autosomal dominant manner, and with each new generation the symptoms and severity of the disease become more pronounced, especially if the defective gene was inherited from the father.

Despite the differences in different types of spinocerebellar ataxias, they all have a similar mechanism of development. Due to an increase in the amount of glutamine in proteins involved in the metabolism of nervous tissue, their structure changes, which leads to disease. The age of first manifestations of the disease varies depending on the type of disease. In some cases, the first symptoms are detected in the preschool years, and in others - after thirty years. Manifestations of ataxia are standard: loss of coordination, deterioration of vision, handwriting, abnormalities in the functioning of internal organs.

Psychogenic or hysterical ataxia

This type is very different from others; it is not associated with organic disorders in the central nervous system. Due to mental disorders, a person’s gait, facial expressions, and pronunciation of words change. The patient begins to perceive himself worse in space. Very often, hysterical ataxia develops in patients with schizophrenia.

Familial Friedreich's ataxia

This type of ataxia is hereditary and is transmitted in an autosomal recessive manner, very often in consanguineous marriages. Due to a mutation in the gene that encodes the protein frataxin, which transports iron from mitochondria, permanent degenerative damage to the nervous system occurs. The lesion in Friedreich's ataxia is of a mixed nature, cerebellar-sensitive; disturbances in the columns of the spinal cord gradually increase, especially in the Gaulle bundles. The first signs of the disease usually begin to appear before the age of twenty-five.

Friedreich's ataxia can occur in both boys and girls. A distinctive feature is the fact that this disease has not been identified in any person of the Negroid race.

The symptoms are similar to other cerebellar ataxias: patients move unsteadily, stagger from side to side. As the disease progresses, it becomes difficult to coordinate the work of the upper and lower extremities, facial muscles and chest. Many people suffering from pathology develop hearing loss. Over time, the following disorders develop:

• interruptions in the functioning of the heart, rapid pulse, shortness of breath appear;
• kyphoscoliosis, in which deformation of the spine occurs in different planes;
• violation of the structure of the foot, it changes its shape, becomes curved;
• diabetes;
• decreased production of sex hormones;
• atrophy of the upper and lower extremities;
• dementia;
• infantilism.

This type of disease is one of the most common types of ataxia. Occurs in approximately 3–7 people out of one hundred thousand people.

Video about Friedreich's familial ataxia

Diagnosis and differential diagnosis

At the first signs of ataxia, you should consult a neurologist. For further consultation, he can refer you to a geneticist, oncologist, traumatologist, endocrinologist, otolaryngologist and various other specialists.

To study disorders of the vestibular apparatus, the following procedures may be prescribed:

• stabilography, in which the patient’s stability is analyzed using an oscilloscope;
• vestibulometry - a set of techniques that allows you to evaluate the functioning of the vestibular apparatus;
• Electronystagmography, which records eye movements to determine the cause of dizziness and identify disorders of the inner ear.

There are also many diagnostic methods that will help clarify the diagnosis and indicate with great accuracy the localization of the pathological process in the central nervous system:

1. Magnetic resonance imaging (MRI) is the most modern and accurate method. With its help, you can take layer-by-layer images of any organ. In case of ataxia, they help to identify oncological tumors, degenerative processes, developmental anomalies and other abnormalities.
2. Computed tomography (CT) is a modern radiation method for obtaining layer-by-layer images of internal organs. Contrasting with special liquids can also be performed.
3. Multislice computed tomography (MSCT) is a very fast scanning method using special sensors that record X-rays passing through the patient's head. Using this type of diagnostics, it is possible to identify tumor formations, inflammatory processes, hemorrhages, and assess the rate of blood circulation.
4. Dopplerography of cerebral vessels is performed using ultrasound. The rate of blood circulation, vascular patency, intracranial pressure, etc. are assessed.
5. Ultrasound diagnostics of the brain helps to detect the growth or reduction of cerebellar tissue.
6. ECG and ultrasound of the heart are necessary for the development of degenerative processes in the heart muscle in the presence of chest pain, rhythm disturbances, etc.

The following tests may also be prescribed:

• general blood analysis;
• study of the level of immunoglobulins in the blood (IgA, IgE, IgG);
• PCR (polymerase chain reaction, the method is based on repeated doubling of a certain section of DNA using enzymes under artificial conditions) to identify pathological microorganisms;
• lumbar puncture (a procedure in which cerebrospinal fluid is taken from the spinal canal using a special needle) to study the cerebrospinal fluid;
• DNA diagnostics for detecting hereditary diseases.

To diagnose cerebellar damage, doctors perform a test for asynergia (impaired ability to produce combined movements). To do this, the patient is asked to perform simple movements in which the following disturbances in the combination of muscle action are visible:

• when walking, the body leans back, the person falls on his back;
• If you begin to tilt your head while standing, your knees will not bend and the patient will lose balance.

Differential diagnosis must be carried out with various brain tumors, Randu-Osler-Weber disease, Hippel-Lindau disease, funicular myelosis, neurosyphilis, hereditary vitamin E deficiency, multiple sclerosis, Parkinson's disease and many other diseases.

Treatment

The treatment tactics for ataxia depend on its type and the stage of damage to brain structures. In the initial stages, you can get by with pharmacological drugs; they help slow down degenerative processes. In more advanced cases, the doctor may recommend surgical treatment to the patient.

Drug therapy

In case of ataxia, pharmacological drugs help to stop pathological processes:

1. Antibacterial treatment is prescribed for infectious lesions (Tetracycline, Ampicillin, Bilmicin).
2. Vasoactive drugs are necessary for vascular disorders (Parmidin, Trental, Mexicor).
3. B vitamins are needed to maintain the functioning of the nervous system (Neuromultivitis).
4. To improve metabolic processes in nerve tissues, the administration of ATP and anticholinesterase drugs (Galantamine, Proserin) is indicated.
5. Antidepressants are prescribed for a depressed emotional state (Amitriptyline, Citalopram).
6. Sedatives are necessary in the presence of psychomotor agitation (Magnesium sulfate, Valerian tincture).
7. Nootropic drugs are prescribed to improve brain function (Phesam, Piracetam).
8. Metabolic drugs are necessary for Friedreich's ataxia (antioxidants, succinic acid, Riboflavin L-carnitine).
9. Neuroprotectors are needed to maintain the activity of the nervous system (Pyritinol, Meclofenoxate).
10. Medicines are prescribed that improve metabolism in the heart (Inosine, Trimetazidine).
11. Cholinomimetics are necessary to improve the transmission of nerve impulses in neurons (Gliatilin).
12. Immunostimulants are needed to maintain resistance to infections in patients with Louis-Bar syndrome (Immunoglobulin).

Surgery

Patients do not always require surgical intervention. However, in some situations, conservative treatment does not give the desired results and doctors strongly recommend resorting to surgery:

1. If tumors, especially malignant ones, are detected, surgical removal is indicated for some patients. Only a neurosurgeon can determine the operability or inoperability of a neoplasm.
2. If hair cells are damaged, the patient is recommended for cochlear implantation; it helps restore hearing and partially improve coordination.
3. Middle ear lavage is prescribed for acute and chronic otitis media that have led to vestibular ataxia. Using a special syringe, a liquid containing antibiotics, corticosteroids and other agents is injected into the patient's ear canal.
4. Sanitation surgery of the middle ear is indicated for cleansing the ear canals and restoring bone tissue.

Physiotherapy and exercise therapy

1. Stand up, you can leave your arms at your sides or raise them up. Raise your left and right leg alternately and stay in these poses for as long as possible. Repeat the steps, only standing on your toes. To make it more difficult, you can perform the exercise with your eyes closed.
2. Take a light ball and mark a target on the wall at which you will throw it. It is necessary to practice accuracy, gradually lengthen the distance and use heavier objects.
3. To develop muscle-joint sense, you need to take objects with your eyes closed and describe their shape and approximate weight.

Various methods of physiotherapy can also be used: ozone therapy, electrophoresis (exposure to the body with direct electric current in combination with the introduction of various medicinal substances through the skin or mucous membranes), myostimulation (exposure to the body of current through special electrodes that are applied to the body).

Video about therapeutic exercises for ataxia

Folk remedies

Ataxia is a very serious condition and cannot be treated on its own. In most cases, it is not possible to achieve recovery using only folk remedies. But they can be prescribed after consulting a doctor as an auxiliary method. It is possible to use various herbs that help strengthen the nervous system:

• infusion of 3 teaspoons of peony root;
• infusion from tsp. chamomile, lemon balm and oregano flowers;
• infusion of half a glass of birch leaves, 3 tsp. chamomile flowers, spoons of honey.

All components must be poured with a glass of boiling water and left to steep for about two hours. Peony is taken 1 tablespoon 4 times a day, other infusions - 150 ml 3 times a day before meals.

Treatment prognosis

Doctors talk about a favorable prognosis for the treatment of ataxia if drug therapy or surgical intervention stops the development of degenerative processes and eliminates disturbances in the functioning of the nervous system. If the cause of the disease is genetic or a malignant tumor has been discovered, the prognosis is usually unfavorable. In this case, specialists try to use treatment to stop the progression of the pathology and maintain the patient’s motor activity. Louis-Bar syndrome has a poor prognosis; children with this disease very rarely survive to adulthood. With Friedreich's ataxia, the prognosis is relatively favorable, many patients live more than twenty years from the onset of the first symptoms, especially if there is no damage to the heart muscle and diabetes. It is impossible to completely recover from genetic varieties of ataxia.

It is not always possible to become pregnant and give birth to a child. There may be contraindications that can lead to danger and even death during childbirth. It is very important to consult with doctors in advance before planning the birth of your baby.

Very often, patients with different types of ataxia experience the following complications:

• paralysis and paresis (weakening of motor activity) of the limbs;
• deterioration of vision and hearing;
• respiratory and heart failure;
• frequent relapses of infectious diseases;
• loss of the ability to move independently and take care of oneself;
• death.

Prevention

If future parents are suspected of having hereditary forms of ataxia, they should be examined by a geneticist to find out the risk of having a sick child. During 8–12 weeks of pregnancy, chorionic villi (the outer membrane of the embryo) can be tested to identify the presence of defective genes in the fetus. Consanguineous marriages should be avoided, as children may develop multiple genetic diseases.

It is also very important to maintain your health, you should eliminate bad habits, promptly treat infectious diseases and try to prevent all kinds of head and spine injuries.

Ataxia is a very serious diagnosis, which often develops dangerous complications. At the first signs of a violation of the coordination of movements, you should consult a doctor. Remember that many types of coordination disorders can be prevented if treatment is started in a timely manner. Unfortunately, inherited ataxias almost always progress and often lead to disability and even death. When planning a pregnancy, you need to find out about cases of such diseases from your closest relatives or contact a geneticist for advice.

Louis-Bar syndrome (congenital ataxia-telangi-ectasia - A-T) is a congenital immunodeficiency condition with a predominant lesion of the T-link of immunity, characterized by abnormal development of embryonic anlages and, apparently, incorrect interaction of ectoderm and mesoderm. Louis-Bar syndrome is a genetic disorder that is inherited in an autosomal recessive manner. First described in 1941 D. Louis-Barr. Population frequency is unknown. Sex ratio: m:f - 1:1.

Immunodeficiency and chromosomal instability are markers of A-T (Ataxia - Teteangiectasia Mutated), which encodes the synthesis of the kinase of the same name. Cells of patients with A-T are characterized by increased sensitivity to radiation, defects in the cell cycle, but clinical manifestations and immunological disorders have significant differences, there is an increased incidence of malignant tumors and spontaneous chromosomal instability, chromosomal breakdowns involving mainly the 7th and 14th chromosomes .

It is known that the cell cycle is divided into 4 phases: mitosis (M) and DNA synthesis (S), separated by two breaks Gl and G 2. The sequence of the cell cycle is as follows: G 1 - S - G 2 - M. After exposure to ionizing radiation, DNA double-strand breaks occur. If DNA repair occurs, the cell cycle is restored; if not, cell death occurs by apoptosis or a mutant clone develops. Normally, the cell cycle when exposed to radiation can be blocked at two critical points - the transition from the Gl phase to the S phase and/or from the G 2 phase to the M phase. In A-T, control of the cell cycle is disrupted at critical points. Double-strand DNA breaks occur during recombination of immunoglobulin and T-cell receptor genes. Processes resembling the recombination of immunoglobulin genes occur during the maturation of brain neurons. It is obvious that it is with defects in DNA repair in these cases that many clinical and immunological manifestations in patients with A-T are associated, such as disturbances in the synthesis of immunoglobulins, the function of the genital organs and the nervous system.

Clinical manifestations of A-T may vary significantly in different patients. Progressive cerebellar ataxia and telengiectasia are present in everyone, and café au lait spots on the skin are common. The tendency to infections ranges from very severe to very moderate. The incidence of malignant neoplasms, mainly of the lymphoid system, is very high. Immunological changes in patients with A-T are disorders of cellular immunity in the form of a decrease in the number of T lymphocytes, inversion of the CD4+/CD8+ ratio (mainly due to a decrease in CD4+ cells) and a decrease in the functional activity of T cells. In terms of serum immunoglobulin concentrations, the most characteristic change is a decrease or absence of IgA; less often, immunoglobulin concentrations close to normal are detected, or disimmunoglobulinemia in the form of a sharp decrease in IgA, IgG, IgE and a significant increase in IgM. A characteristic disorder is the formation of antibodies in response to polysaccharide and protein antigens. Treatment methods for A-T have not been developed to date. Patients need palliative therapy for neurological and somatic disorders. In case of detection of serious immunological changes and/or chronic or recurrent bacterial infections, antibacterial therapy is indicated (duration is determined by the severity of immunodeficiency and infection), replacement therapy with intravenous immunoglobulin, and, if indicated, antifungal and antiviral therapy.

Clinical characteristics. The disease begins in early childhood and manifests itself primarily as cerebellar ataxia (100%). Rocking of the head and body, gait disturbance, intention tremor and choreoathetosis are noted (90-100%). Characteristic changes in the eyes are impaired movement of the eyeball (80-90%), nystagmus (90-100%) and strabismus. At the age of 2 to 6 years, telangiectasias appear on the conjunctiva and open areas of the body, the mucous membrane of the soft and hard palate. An important sign of the syndrome is chronic respiratory infections (sinusitis and pneumonia, 60-80%). Growth retardation, age spots or areas of depigmentation on the skin, scleroderma, muscle hypotonia, hyporeflexia and dysarthria are observed. Patients often develop malignant neoplasms, and in 10-30% the lymphoreticular system is affected.

A pathological examination reveals aplasia or hypoplasia of the thymus, a decrease in the size of the lymph nodes and spleen, signs of cerebellar degeneration, and fibrous ovarian dysplasia. With A-T, there is a violation of the B- and T-cell immune systems, which is expressed in the absence of serum immunoglobulins, mainly IgA, but sometimes IgG and IgE. Cytogenetic studies of lymphocytes often reveal various chromosomal aberrations and chromosome fragility. Patients die from pulmonary infections or from malignant neoplasms.

Neurological symptoms come first in the clinical picture, so the disease was initially described as cerebellar ataxia. Between the ages of 2 and 8 years, telangiectasias occur, which are usually located on the bulbar conjunctiva, between the angle of the eye and the limbus, and look like red convoluted vessels. Aplasia of the thymus gland, hypoplasia (underdevelopment) of the lymph nodes, spleen, group lymphatic follicles of the small intestine, and tonsils are observed. Children with Louis-Bar syndrome constantly experience hypoplasia (underdevelopment) or aplasia (complete absence) of the palatine tonsils. The lacunae of the tonsils are underdeveloped. Cervical lymph nodes are small and do not enlarge during infections. Almost all children with Louis-Bar syndrome develop chronic purulent sinusitis and often develop otitis media.

The diagnosis is made based on the clinical picture, as well as laboratory data. All patients with Louis-Bar syndrome almost completely lack T-suppressors. In some patients, cells cannot synthesize IgA, which is due to the absence of T helper cells. A- and b-proteins are found in the blood. The pathogenetic method of treatment is allotransplantation of the neonatal thymus gland. A course of injections of active factors of the thymus gland (T-activin, thymalin, thymacin, etc.) is prescribed, native plasma and normal human immunoglobulin are systematically administered.

Under our supervision was a girl K., she was admitted to the clinic at the age of 13 years and 10 months due to a congenital immunodeficiency condition with ataxia (Louis-Bar syndrome), chronic pneumonia, polysegmental pneumosclerosis, purulent deforming endobronchitis, bronchiectasis in the acute phase, right-sided large-focal pneumonia, complicated by generalized amyloidosis of internal organs: liver with the development of cirrhosis and liver failure, kidneys, spleen, intestines, anemia, cachexia.

When a mother complains of icteric discoloration of the skin, repeated vomiting, anorexia, general weakness, and emaciation. From the anamnesis it is known that she was born full-term, with a low weight of 2,700 g, with an Apgar score of 6-7 points. She was breastfed and did not get sick until she was a year old. From the second year of life, frequent colds were noted, emaciation began to progress, and she suffered from repeated pneumonia. Cerebellar ataxia was diagnosed at the age of 4 years. The girl was consulted at our clinic, and Louis-Bar syndrome was diagnosed in the Moscow clinic. Since then, the symptoms of degeneration and ataxia have progressed, and she has suffered repeated pneumonia. Chronic bronchiectasis was diagnosed. She was treated in hospital several times. For the last 2 years of her life, the girl has not walked; changes in the liver and kidneys associated with amyloidosis have occurred. 3 months before the last hospitalization, she was in the clinic, the diagnosis was confirmed, she received complex therapy - broad-spectrum antibiotics, detoxification therapy, immunotherapy. The girl's condition has stabilized. She was discharged home on a maintenance dose of medications that improve the metabolic processes of the liver and kidneys. 2 weeks before admission, the patient’s condition sharply worsened, jaundice increased, complete anorexia was observed, and repeated vomiting appeared. Sent to the clinic.

Upon admission, the general condition was serious. The girl is severely dystrophic. The skin and sclera are icteric, multiple “star-shaped” rash. The eyeballs have a pronounced vascular pattern. She is inhibited and answers questions sluggishly. The position in bed is horizontal, sitting with support. Visible mucous membranes are pale. The tongue is pink. Peripheral lymph nodes are small, single, up to 0.5-1.0 cm in diameter, submandibular lymph nodes are palpable. Pulse - 100. RR - 40. Blood pressure - 100/60 mm Hg. Above the lungs there is a pulmonary sound percussion, shortened in the lower parts, auscultation of breathing is hard, weakened in the lower parts, single moist fine bubbling rales are heard. The borders of the heart are expanded in diameter, the left one along the anterior axillary line. The tones are muted and rhythmic. The abdomen is enlarged in volume, soft on palpation, and there is no ascites. The liver is dense, palpated 4 cm below the costal arch, the spleen is dense, palpated 5 cm below the costal arch at the entrance to the pelvis. Urinates freely. The chair is decorated and straightens on its own.

Laboratory examinations

Blood test: Er. - 2.9 T/l, Hb - 90 g/l, C.P - 0.9, Lake. - 8.2 G/l, anisocytosis and poikilocytosis are pronounced, p/i - 14%, s/i - 20%, l. - 64%, m. - 2%, ESR - 6 mm/hour. Residual blood nitrogen - 54.5 g/l. Blood cholesterol - 4 µmol/l. AST - 0.35, ALT - 0.42. Total blood bilirubin - 84.8 mmol/l, direct - 74.2, indirect - 10.6.

Sublimate test - 1.6. Total blood protein - 64 g/l, albumin - 46.7, gamma globulins - 19%. Blood prothrombin - 75%.

Urinalysis: protein - 0.86 g/l, Lake. — 10-15, up to 25 in field view, Er. — 10 in the field of view, hyaline cylinders — 1-2, granular — 1-2 in the field of view.

On a chest x-ray: the lung tissue is moderately distended, especially in the lower lobes. The pulmonary pattern is strengthened, expanded, on the right in the middle lobe there is large-focal infiltration of the lung tissue without clear contours. The sinuses are free. The heart is normal. ECG: diffuse myocardial damage. Based on the anamnesis, objective data, clinical examination and observation, the above diagnosis was made.

Received therapy: intravenous drip of Ringer's solution, hemodez, plasma, corglucon, lasix, ampicillin intramuscularly, daily gamma globulin, sirepar, lipoic acid, methionine, prednisolone, oxygen therapy, diet No. 7.

Despite the therapy, the girl’s condition progressively worsened, the symptoms of liver and kidney failure increased, and daily diuresis decreased, in recent days up to 300 g per day. The number of wheezes in the lungs increased, and respiratory and heart failure increased. 18 days after admission to the hospital, the condition was agonizing, nosebleeds appeared, there was an admixture of blood in the stool, tar-like stools, and a liver smell appeared. The resuscitation measures carried out had no effect. Due to hepatic failure accompanied by respiratory and heart failure, the girl died on the 20th day of her stay in the clinic.

Pathological diagnosis

Basic: congenital immunodeficiency condition with ataxia - Louis-Bar syndrome. Chronic pneumonia. Polysegmental pneumosclerosis, purulent deforming endobronchitis, bronchiectasis in the acute stage, right-sided macrofocal pneumonia.

Complications: generalized amyloidosis of internal organs: liver with the development of cirrhosis and liver failure, kidneys, spleen, intestines. Anemia. Cachexia.

The peculiarity of this clinical case can be considered the rare frequency of occurrence, the characteristic clinical and laboratory picture of the disease, the slow progression of the development of Louis-Bar syndrome, and the age of the patient.