Teleangiectatic ataxia

Ataxia telangiectatic (Louis-Bar syndrome), Relatively rare disease with autosomal recessive type of inheritance.

Pathogenesis is not fully disclosed. In recent years, more and more adherents have come to the conclusion that the violation of DNA repair leads to deletion of chromosomes, as well as manifestations of clinical symptoms in general. Anomalies are usually associated with chromosome 14. IgA deficiency is due not to the absence of the corresponding structural gene, but to the cell maturation block (persistence of IgA) and the production of anti-IgA antibodies. The causal relationship between immune, vascular and neurologic disorders has not been proven.

The clinical picture is characterized by a progressive violation of coordination of movements, telangiectasias, delayed mental and physical development, and in most cases, the presence of infectious processes, mainly the respiratory tract. Tumors of lymphoreticular tissue are observed. Often, the main signs of the disease appear only at the age of 3-5-15 years. In addition to these signs, there is a sharp decrease in IgA, IgE levels and in 10-12% of cases of IgG. In 40% of patients, autoimmune reactions are detected (antibodies to thyroglobin, mitochondria, immunoglobulins, etc.) and almost all have a violation of cellular immunity. The child's death usually comes suddenly on the background of an infection and / or a malignant neoplasm. Patients rarely reach the age of 20-30 years.

The diagnosis is confirmed by the history, clinical manifestations, the detection of a low level of immunoglobulins in the blood. Differential diagnosis is carried out with immunodeficiency diseases of another genesis.

Treatment is symptomatic. Substitution therapy for IgA is not completely safe.

The outlook is unfavorable.