Signs and manifestations of ataxia of telangiectasia

Ataxia telangiectasia is a disease in which there is a violation of immunity associated with T cells in conjunction with progressive cerebellar ataxia, the presence of widespread telangiectasias of the skin and eye conjunctiva. What is the cause of the disease?

This rare pathology is based on genetic inheritance in the autosomal recessive type. The second name is the Louis-Bar syndrome.

The peculiarity of ataxia of telangiectasia is degenerative congenital changes in the tissues of the cerebellum( granular cells and fibers of Purkinje, black substance) and thymus. Less often, lesions of individual cortical areas and posterior columns( nerve fibers) of the spinal cord are noted. This determines its main symptoms - the growing discoordination of movement and a marked decrease in the body's immune forces, which underlie the complications of the disease - the formation of tumors and frequent serious infections.

As manifested by ataxia of telangiectasia

Most often the syndrome manifests itself in a child from five months and until reaching the age of three. The disorder of coordination in the infant is difficult to diagnose, but it becomes noticeable after the baby tries to start walking. He has a trembling of the head, hands, sometimes the whole body. Characteristic changes in the gait, the appearance of strabismus and nystagmus.

In rare cases, such symptoms do not appear until 4 years. By the age of 10, movement is often impossible, but sometimes there are some cases of improvement due to the inclusion of mechanisms for compensating other structures responsible for the motor system.

Also often with this syndrome may be speech disorders, decreased muscle tone and hyporeflexia.

Teleangiectasias become noticeable from three to six years. These vascular asterisks arise due to a disruption in the structure of the subcutaneous small vessels. Initially, they are localized only on the bulbar conjunctiva, and then go over to the nose and other parts of the face and neck, typically their location with this form of disease on the back of the hands and feet.

Sometimes cutaneous manifestations of ataxia of telangiectasia are so pronounced that they completely merge on the face, and in combination with skin tightening they can be mistaken for systemic scleroderma.

Occurrence of vascular asterisks occurs as a sign of other diseases, but in combination with imbalance and coordination they are a specific sign of ataxia of teleagiectasia.

Children with the syndrome of Louis-Bar often suffer from infectious diseases - pneumonia, bronchitis, otitis, sinusitis. This is due to the inability of the body to cope with microbial and viral infection due to weakened immunity.

Often, with such a pathology, there may be significant disturbances in the work of endocrine organs. Toddlers suffer from diabetes mellitus, boys undergo testicular malnutrition, infertility.

In the blood there is a sharp decrease in immunoglobulins and T-lymphocytes. In 40% of patients, autoimmune reactions are noted, which is revealed when specific antibodies are found in the blood.

With such a syndrome, the incidence of malignant neoplasms is 1000 times higher than among the rest of the population.

Oncopathology in the ataxia of theolangiectasia is often represented by leukemia, gastric cancer, brain tumors.

The prognosis for ataxia of telangiectasia is unfavorable. All processes and manifestations are progressing, pronounced muscular weakness, paralysis, dementia develops. The maximum age of life of such patients under favorable conditions is about 30 years.

Methods of treatment

Unfortunately, the modern level of science can not completely cure this syndrome. Therefore, all efforts of doctors are directed to correction of symptoms and complications.

Infectious processes are treated with antibacterial agents. Commonly used medications are also used. There are proposed scientific developments on the surgical transplantation of the thymus, but so far they are not used in practical medicine.

In a number of cases, bone marrow transplantation, immunoglobulin therapy, and administration of thymus hormones are practiced.

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