The Louis-Bar syndrome: symptoms, diagnosis and treatment

As you know, there are many different chromosomal abnormalities, which are laid in the period of intrauterine development. These pathologies are studied by genetics. In recent years, this area of medicine is actively developing, so in the near future such diseases will be easier to diagnose and treat. Fortunately, these anomalies are very rare. This is due to the improved diagnosis of the fetus. One of the pathologies associated with chromosomal abnormalities is the Louis-Bar syndrome. In most cases, this disease is detected in the first year of life of the baby, but sometimes it only affects 6-7 years.

The Louis-Bar syndrome - what is this pathology?

This pathology refers to congenital genetic defects. In most cases, it is inherited. Ataxia-telangiectasia (the Louis-Bar syndrome) is extremely rare. This disease has specific manifestations that make it possible to diagnose this pathology. To make an accurate diagnosis, a consultation of doctors is needed, which will confirm or refute the presence of a terrible anomaly.

History and epidemiology of the disease

This syndrome is very rare. Its frequency is about 1 case per 40 thousand population. For the first time the disease was discovered by a French woman scientist Louis-Bar. Syndromes, characteristic of this pathology, she combined into one nosology. This happened in 1941. After that, several more cases were found around the world. Since this anomaly is extremely rare, it is impossible to tell exactly what the etiology of the Louis-Bar syndrome is. It is believed that the appearance of the disease does not depend on climatic conditions. Therefore, the syndrome can occur in any regions. In addition, there is no data that would link the incidence to the patient's sex. That is, the Louis-Bar syndrome with the same frequency is observed in boys and girls.

Causes of pathology development

This developmental anomaly is laid in the first trimester of pregnancy. The disease is transmitted only by inheritance. The syndrome refers to autosomal recessive genetic pathologies. This means that the child will accurately inherit the disease if both parents have a chromosome disorder. If the anomaly is observed in one of them (regardless of sex), then the chance of occurrence of the syndrome of Louis-Bar in the baby is 50%. The main cause of the mutation is the violation of the long arm of the 11th chromosome. The exact factors that lead to such genetic rearrangement are unknown. But there are a number of harmful influences affecting embryonic development. First of all, these are environmental factors (irradiation, poisoning with poisonous substances). Also in the first trimester of pregnancy stress is very dangerous.

The Louis-Bar syndrome: the pathogenesis of the disease

Like most congenital chromosomal pathologies, this syndrome covers several organs and systems. The main targets of this disease are the brain and human immunity. There is also a pronounced lesion of the skin. All clinical manifestations of this disease are associated with the mechanism of its development. In the first place, there are degenerative processes in the central nervous system. Namely, cerebellar ataxia. At the same time, some elements do not develop (Purkinje fibers and granular cells). Other visible disorders are skin manifestations - telangiectasia. They are enlarged vessels, which are especially pronounced on the face (injection of sclera, ears, nose). The ataxia of the cerebellum and telangiectasia are collectively called the Louis-Bar syndrome. Children born with this disease can be identified in the first years of life, since the abnormality manifests itself by pronounced physical impairments (developmental lag, unstable position of the body, muscle weakness).

In addition , the pathogenesis of the disease includes a deficiency of the immune system (T-lymphocytes). In children suffering from this pathology, hypo- or complete thymus aplasia is observed. As a result, cellular immunity is very poorly developed and can not protect the body from infectious processes.

Symptoms of ataxia-telangiectasia

The severity of the clinical picture depends on the degree of damage to the cerebellum and hypoplasia of the fork of the gland. This determines how the Louis-Bar syndrome will manifest itself. Symptoms of the disease:

1. Cerebellar ataxia. This syndrome manifests itself before others, usually in the first year of life. It becomes pronounced by the time when you start walking alone. Children with cerebellar ataxia often can not stand and move normally. In more favorable cases, the gait of the gait and the tremor of the extremities are observed . In addition, neurological symptoms are expressed in weakness of muscles, dysarthria of various degrees (slurred speech) and strabismus.
2. Telangiectasia. The cutaneous manifestations of the Louis-Bar syndrome are less dangerous. Usually they make themselves felt at the age of 3 to 6 years. Teleangiectasias are enlarged capillaries, which are called "vascular asterisks". Most of all, they are visible on open areas of the body, in particular on the face. Extended vessels are often in the eyes, on the nose and ears, as well as the flexural surfaces of the hands and feet.
3. Propensity to infections. Because of pronounced immunodeficiency, the body does not cope with harmful agents independently. As a result, the child often develops various infections. Often these are chronic respiratory diseases - pharyngitis, laryngitis, tonsillitis, pneumonia.
4. Tumor processes. Because of thymic hypoplasia, in addition to infectious processes, the body becomes susceptible to cancer. Most often, these are tumors of the hematopoietic and lymphoid tissue. If the Louis-Bar syndrome in a child is a reliable diagnosis, then it is strictly forbidden to treat the cancer with ionizing radiation.

Diagnosis of ataxia-telangiectasia

Diagnosis of the Louis-Bar syndrome usually does not provide much complexity, since its symptoms are quite specific. Suspected this disease can be from the first years of life in the clinical picture. Neurological symptoms (cerebellar ataxia, muscle weakness, tremors and strabismus) in conjunction with telangiectasias are an indication for the diagnosis of this pathology.

If you suspect a diagnosis of Louis-Bar syndrome, you need to consult several specialists at once. Among them: neurologist, dermatologist, oncologist, infectious disease specialist, endocrinologist and geneticist. In addition to clinical examination, laboratory and instrumental diagnostics are performed. Immunological tests are performed in which there is a decrease or total absence of cellular immunity elements (decrease in T-lymphocytes, immunoglobulins A, G). In the UAC, leukocytosis and acceleration of ESR are observed, which indicates an inflammatory process in the body. Instrumental diagnostics is also important. Chest X-ray (reduction of thymus size), MRI of the brain (degenerative processes) are performed. Currently, in addition to standard studies, conduct genetic (investigating the violation of the 11th chromosome), on the basis of which an accurate diagnosis is made.

Treatment of Louis-Bar syndrome

Unfortunately, the etiological treatment of chromosomal abnormalities has not been developed at the moment. Therefore, with this pathology, only symptomatic therapy and constant monitoring of the patient are performed. First of all, the treatment is aimed at improving the immune system. This is necessary to avoid infections and tumor processes. For this purpose, gamma globulin and T-activin are used. When developing inflammatory diseases, antibacterial and antiviral agents are used. Unfortunately, the syndrome of cerebellar ataxia does not lend itself to complete treatment. To stop the degenerative processes, use nootropic drugs. With oncological diseases resort to chemotherapy and surgical treatment.

The prognosis for life with the Louis-Bar syndrome

Despite the severity of the disease, with timely diagnosis and treatment it is possible to prolong and alleviate the child's life. For this purpose, palliative therapy has been developed for such patients. Unfortunately, the anomaly of Louis-Bar can progress rapidly. In this case, the life expectancy is 2-3 years. Sometimes the disease does not develop for several years. At the same time, life expectancy increases significantly. The maximum age of patients is 20-30 years. In most cases, the causes of death are infectious and tumor processes, sometimes - neurological disorders.

Prevention of Louis-Bar syndrome

To avoid the development of this pathology, it is necessary to conduct a genetic examination of the fetus even in the early stages of pregnancy. It is also important to know the anamnesis not only of the parents of the future child, but also of other family members. During pregnancy, you should avoid the harmful effects of the environment and psycho-emotional stress.

If a baby with such an anomaly was already born, it is important to fulfill all the doctor's prescriptions, to protect the child from infectious agents. With weak immunity and disrupted physical development, it is necessary to diagnose the Louis-Bar syndrome in a timely manner. Photos of children with this disease can be seen in special medical literature.