Ataxia Telangiectatic

Ataxia Telangiectatica: a rare disease with unknown pathogenesis

Ataxia Telangiectaticis, also known as Louis-Bar syndrome, is a rare genetic disorder inherited in an autosomal recessive pattern. This disease is characterized by progressive impairment of motor coordination, telangiectasia, slow mental and physical development, as well as the presence of infectious processes, mainly of the respiratory tract.

The pathogenesis of Ataxia Telangiectatica has not been fully elucidated. In recent years, more and more supporters have gained the opinion that impaired DNA repair causes chromosome deletions, as well as the manifestation of clinical symptoms in general. Anomalies are usually associated with chromosome 14. IgA deficiency is also noted, which is explained not by the absence of the corresponding structural gene, but by a block in cell maturation (IgA persistence) and the production of aHTH-IgA antibodies. A causal relationship between immune, vascular and neurological disorders has not been proven.

The clinical picture of Ataxia Telangiectatica is characterized by impaired coordination of movements, which manifests itself primarily in difficulties with walking and balance. Telangiectasia (dilated capillaries of the skin and mucous membranes), slow mental and physical development and frequent infectious processes, mainly in the respiratory system, are also observed. Tumors of lymphoreticular tissue are also one of the signs of the disease. The main signs of the disease usually appear at the age of 3-5-15 years, and rarely reach the age of 20-30 years.

In 40% of patients, autoimmune reactions are detected, such as antibodies to thyroglobin, mitochondria, immunoglobulins, etc., and almost all patients have a violation of cellular immunity. The death of a child usually occurs suddenly due to infection and/or malignancy.

The diagnosis of Ataxia Telangiectatica is confirmed by medical history, clinical manifestations and the detection of low levels of immunoglobulins in the blood. Differential diagnosis is carried out with immunodeficiency diseases of other origins.

Treatment of Ataxia Telangiectatica is symptomatic. IgA replacement therapy is not completely safe and can lead to serious side effects. Therefore, it is prescribed only for severe IgA deficiency and only after careful discussion of the benefits and risks with the patient and his family. Other treatment methods are aimed at reducing the incidence of infectious complications and symptomatic therapy.

The prognosis of Ataxia Telangiectatica is unfavorable. Patients rarely reach the age of 20-30 years, and death usually occurs in childhood due to an infectious or oncological complication. Regular monitoring and timely treatment of infectious complications can improve the quality of life of patients and increase their life expectancy.

Thus, Ataxia Telangiectatica is a rare genetic disease with an unknown pathogenesis, which is characterized by progressive loss of coordination of movements, telangiectasia, delayed mental and physical development, as well as the presence of infectious processes, mainly of the respiratory tract. Treatment is aimed at reducing the incidence of infectious complications and symptomatic therapy. The prognosis is poor, and death usually occurs in childhood.