Classification

The syndrome can appear either from birth or after some time. Late manifestations of the syndrome usually occur in children 6-7 years old.

The syndrome, if manifested from birth, is more often characterized by the appearance of cerebellar ataxia. Its signs are clearly visible at the time when the child takes his first steps, since balance is completely disturbed and intention tremor is present. Sometimes it comes to the point that, with pronounced signs, the child cannot walk at all. Typically, ataxia is combined with cerebellar dysarthria (impaired motor skills) and nystagmus (involuntary high-frequency oscillatory eye movements).

With this rare form of phakomatosis, neurological symptoms, skin manifestations in the form of spider-like proliferation of blood vessels (telangiectasia), and a decrease in the immunological reactivity of the body are observed. The disease is caused genetically and is inherited in an autosomal recessive manner.

A pathological examination reveals a decrease in the number of nerve cells and proliferation of blood vessels in the cerebellum.

The first signs of the disease appear between the ages of 1 and 4 years. The gait becomes unstable, awkward movements appear, and the fluency of speech (chanted speech) is disrupted. The progression of cerebellar disorders gradually leads to the fact that patients stop walking independently. Involuntary movements of the limbs and poor facial expressions are often observed. Speech is monotonous and poorly modulated.

Another characteristic sign of the disease is vascular changes in the form of telangiectasia, located on the mucous membrane of the eyes, mouth, soft and hard palate, and skin of the extremities. Telangiectasia usually occurs after ataxia, but can also be the first symptom of the disease.

Children with Louis-Bar syndrome often suffer from colds, inflammation of the paranasal sinuses, and pneumonia. These diseases often recur and take a chronic course. They are caused by a decrease in the protective immunological properties of blood and the lack of specific antibodies.

As the disease progresses, intellectual impairment intensifies, attention and memory become impaired, and the ability to abstraction decreases. Children become exhausted quickly. Changes in mood are noted. Tearfulness and irritability are replaced by euphoria and foolishness. Sometimes patients are aggressive. They lack a critical attitude towards their own defect.

In the treatment of Louis-Bar syndrome, general restoratives and drugs that improve the functionality of the nervous system are used. Attempts are being made to replace the missing immunological blood fractions by transplanting a thymus gland taken from a deceased newborn and introducing thymosin extract from the thymus gland.

Therapeutic and pedagogical measures are very limited due to frequent colds and the steady progression of the process, leading to severe intellectual impairment.

Tuberous sclerosis

Tuberous sclerosis is a rare disease characterized by peculiar skin changes, seizures and dementia. Tuberous sclerosis occurs with a frequency of 1:30,000. In institutions for the mentally retarded, such patients account for 0.3%. The disease is caused genetically and is inherited in an autosomal dominant manner.

Pathomorphological examination reveals yellowish nodules of varying sizes and dense consistency in the brain tissue. These plaques are located mainly in the cerebral cortex, white matter, and ventricular walls. Plaques are a proliferation of connective tissue with an accumulation of specific cells that are found only in this disease. In addition to brain damage, kidney tumors are often found, less often - tumors of the heart (rhabdomyomas), lungs, liver, spleen, pancreas and other organs. This systemic nature of the lesion is due to impaired development of the main germ layers.

The disease begins in early childhood, often in the first year of life. The first symptoms are seizures. The same patient may experience seizures of various shapes, durations and frequencies (minor, major, psychomotor, focal, etc.). Minor seizures in the form of nodding, salaam convulsions are more typical for children in the first year of life. Then these seizures give way to large convulsive paroxysms, which can be combined with small seizures in the form of absences, freezing, “pecking”, etc. Sometimes there is a long non-convulsive interval (more than one year). As the disease progresses, these “bright” gaps become smaller.

Another symptom of tuberous sclerosis is dementia. In some cases, signs of mental retardation are detected at an early age. Children begin to speak late, are less emotional, and have difficulty learning self-care skills and new information. Thinking is concrete. There are deviations in behavior. In the first years of life, patients still advance in mental development, although they lag behind their peers. With the appearance of convulsive seizures, and sometimes without connection with seizures, regression of mental functions is observed: speech and behavior are impaired, acquired skills are lost. The psyche gradually completely disintegrates. Most patients experience a decrease in intelligence to the degree of idiocy, less often - deep imbecility. In other cases, children develop normally during the first years of life. With the onset of convulsive seizures, and sometimes even before them, changes in character and behavior are noted. Children begin to experience difficulties in the learning process, become aggressive and angry, speech is almost completely disrupted and skills are lost.

At the age of 2-6 years, changes appear on the skin. On the face in the cheek area, multiple or single adenomas of the sebaceous glands are localized, which look like pink or bright red protruding formations, reminiscent of juvenile acne. Pigmented or depigmented spots and warty tumors may appear on the trunk and limbs; a peculiar roughness of the skin (“shagreen skin”) is noted. Sometimes there are changes in the nails and the appearance of strands of gray hair.

The diagnosis of tuberous sclerosis is confirmed by examining the fundus, which reveals characteristic grayish-yellow growths resembling mulberries. X-rays of the skull reveal multiple small calcified formations located in the area of ​​the ventricles of the brain, in the cerebral cortex, and cerebellum. Electroencephalography reveals more severe disturbances in the bioelectrical activity of the brain than in epilepsy.

The disease progresses rapidly, patients rarely live more than 20 - 25 years. Death occurs during continuous convulsions due to cerebral edema.

In the treatment of tuberous sclerosis, anticonvulsants, sedatives, and drugs that reduce intracranial pressure are used. Sometimes surgical treatment and radiotherapy are performed.

Due to severe dementia, patients require constant care and supervision. As a rule, they are not trained and are found in social welfare institutions.

Ataxia-telangiectasia is a complex genetic neurodegenerative disease that can manifest in early childhood. The disease is characterized by a gradual loss of coordination of voluntary movements (ataxia), the development of reddish lesions of the skin and mucous membrane due to the constant expansion of a group of blood vessels (telangiectasia) and disturbances in the functioning of the immune system (for example, cellular and humoral immunodeficiency), which leads to increased susceptibility in the upper and lower respiratory tract. People with ataxia telangiectasia also have an increased risk of developing certain cancers, especially cancers of the lymphatic system, blood-forming organs (such as leukemia), or brain cancer.

Progressive ataxia typically develops in infancy and may initially be characterized by an abnormal discrepancy in the movements of the head relative to the trunk. As the disease progresses, the condition results in the inability to move normally, and sometimes even walk, by late childhood or adolescence. Ataxia is often accompanied by difficulty in pronouncing words due to a violation of the speech apparatus, as well as a violation of the ability to coordinate eye movements, including the occurrence of involuntary, rapid, rhythmic eye movements when trying to focus on certain objects.
In addition, by the age of 6-7 years the child may develop dilatation of small blood vessels in the skin, often appearing on exposed skin areas such as the bridge of the nose, ears and certain areas of the extremities, as well as the mucous membranes of the eyes.

Telangiectasia (persistent dilatation of small vessels) in a child; a similar picture can be seen in older people.

An early symptom of ataxia-telangiectasia is decreased muscle coordination, usually when the child begins to walk. Coordination (especially in the head and neck area) becomes impaired and involuntary muscle contractions may occur. In most cases, mental functioning is not affected, and most children are at par with children without the condition in terms of mental abilities.

Visible dilated blood vessels usually begin in the eyes (the eyes appear bloody) between the ages of three and six, although telangiectasia may appear earlier. These spots may spread to the eyelids, face, ears, and possibly other areas of the body. Rapid eye blinking and movements, as well as turning the head, may develop gradually. Sometimes nosebleeds may occur. Adenoids, tonsils, and peripheral lymph nodes may develop abnormally or not develop at all. Muscular coordination in the head and neck area can gradually become impaired, causing cough reflexes and problems with swallowing and breathing.

Growth retardation can be explained by growth hormone deficiency. Premature aging occurs in approximately ninety percent of affected individuals and is characterized by gray hair with dry, thin, wrinkled or discolored skin during adolescence.

Due to a compromised immune system, patients with ataxia-telangiectasia syndrome are at risk for chronic or pulmonary infections, recurring cases of pneumonia and chronic bronchitis.

About one in three affected people usually develop cancer of certain malignancies, especially lymphatic system or leukemia. Exposure to X-rays increases the incidence of possible tumors.

In some cases, a mild form may occur diabetes mellitus. is a disease in which there is insufficient production of the hormone insulin. Primary symptoms may include increased thirst and urination, weight loss, lack of appetite and fatigue.

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Causes

Ataxia telangiectasia is inherited as an autosomal recessive type of inheritance of traits. Genetic diseases are determined by two genes, one from the father and the other from the mother.

Recessive genetic disorders occur when a person inherits the same gene for the same trait from each parent.

The disease gene that causes ataxia-telangiectasia is known as the 11q2/ATM gene. Chromosomes carry the genetic characteristics of each person. The human chromosome pairs are numbered 1 to 22, with an unequal 23rd pair of X and Y chromosomes for males and two X chromosomes for females.

The researchers determined that the ATM gene affects a protein that plays a role in regulating cell division after DNA damage. (DNA, or deoxyribonucleic acid, is the carrier of the genetic code.) The protein, which is known as ATM, is an enzyme that normally responds to DNA damage by causing the accumulation of the p53 protein, which prevents cell division. However, in individuals with ataxia-telangiectasia, pathological changes in the gene are caused by the absence or deficiency of the ATM protein and the accumulation of the p53 protein is delayed. As a result, cells with DNA damage continue to divide without adequate repair of their DNA, causing an increased risk of developing cancer.

Forms of ataxia, how not to confuse Louis-Bar ataxia with other forms

Ataxia- walking with an unsteady gait caused by a lack of muscle coordination. There are many forms of ataxia. Some ataxias are inherited, some have other causes, and sometimes ataxia can be a symptom of other disorders. To find information about other types of ataxia.

Symptoms of the following disorders may be similar to ataxia-telangiectasia. Comparisons can be useful for diagnosis:

• Friedreich's ataxia is a genetic, progressive, neurological movement disorder that usually appears before adolescence. Initial symptoms may include poor posture, frequent falls, and progressive difficulty walking due to poor coordination. Patients with Friedreich's ataxia may also develop abnormalities of some reflexes; characteristic foot deformities; hand inconsistency; slurred speech; and rapid, involuntary eye movements. Friedreich's ataxia may also be associated with cardiomyopathy, a disease of the heart muscle that can be characterized by shortness of breath on exertion, chest pain, and abnormal heart rhythms (cardiac arrhythmias). In some cases, it may also develop diabetes, a condition in which there is insufficient secretion of the hormone insulin. Friedreich's ataxia can be inherited as an autosomal recessive trait.
• Ataxia Pierre-Marie— neuromuscular syndrome is inherited as a dominant trait. Also known as Pierre Marie disease or hereditary cerebellar ataxia. An early symptom is unsteadiness when walking down stairs or on uneven ground. Frequent falls may occur as accompanying symptoms such as tremors, loss of coordination, and slurred speech develop. In later stages, slight vision loss may also occur
• Charcot-Marie-Tooth tooth is a group of disorders that affect motor and sensory peripheral nerves, resulting in muscle weakness and wasting, primarily in the legs and sometimes in the arms

Diagnosis of Louis-Bar disease

The diagnosis of ataxia-telangiectasia is made based on the patient's medical history, a thorough clinical examination, identification of characteristic symptoms and special tests, including blood tests, magnetic resonance imaging and karyotyping.

Blood tests can detect elevated levels of serum alpha-fetoprotein, which is found in about 85% of cases. Blood tests may also show elevated liver enzymes. During MRI, a magnetic field and radio waves are used to create cross-sectional images of the brain that can show progressive cerebellar atrophy. Karyotyping is a specialized test that detects chromosomal abnormalities, and children with Louis-Bar disease have an increased incidence of such chromosomal abnormalities.

Treatment ataxia-telangiectasia syndrome

Children with Louis-Bar syndrome should avoid excessive exposure to sunlight. Vitamin E therapy, in some cases, has been successful in temporarily relieving some symptoms, but should only be carried out under medical supervision to avoid side effects, it is also useful to monitor the child's condition and avoid cases of diarrhea, since the immune system plays a large role in this disease, e.g. when protecting against infectious diseases.

Patients with a similar syndrome are sometimes prescribed the drug diazepam; it can help in some cases, get rid of slurred speech and involuntary muscle contractions.

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.

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.