The Louis-Bar syndrome: symptoms, diagnosis and treatment
As is known, there are many different chromosomal abnormalities that are laid down during the period of intrauterine development. The study of these pathologies involved in 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 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.
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. The disease was first discovered by the French woman scientist Louis-Bar. Syndromes, characteristic for 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 region. In addition, there is no data that links 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 development of pathology
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 they sing out a number of harmful influences that affect 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.
Louis-Bar syndrome: the pathogenesis of
As with 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 related to the mechanism of its development. First of all, there are degenerative processes in the central nervous system. Namely, cerebellar ataxia. At the same time, some of the elements do not develop( Purkinje fibers and granular cells).Other visible disorders are skin manifestations - telangiectasia. They are dilated vessels, which are especially pronounced on the face( injection of the 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 anomaly 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).Hypo- or complete thymus aplasia is observed in children suffering from this pathology. 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: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.
Diagnosis of ataxia-telangiectasia
Diagnosis of 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: neuropathologist, 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 elements of cellular immunity( decrease in T-lymphocytes, immunoglobulins A, G).In the UAC is observed leukocytosis and acceleration of the ESR, 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. At present, in addition to standard studies, genetic tests are carried out( investigate the violation of the 11th chromosome), on the basis of which an accurate diagnosis is made.
Treatment of the Louis-Bar syndrome
Unfortunately, the etiological treatment of chromosomal abnormalities has not been developed to date. 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 functioning of 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.
Prognosis for life in the syndrome of Louis Bar
Despite the severity of the disease, with timely diagnosis and treatment can extend and lighten the life of the child. For this purpose, palliative therapy has been developed for such patients. Unfortunately, the anomaly of Louis-Bar can progress quickly. 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 the 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.