Ataxia-telangiectasia (Louis-Bar syndrome): report of a case

Ataxia-telangiectasia is a rare genetic disorder with multisystem manifestations. Major symptoms include development of ataxia and oculomotor disorders in early childhood. Telangiectasias may appear at the same period of time or later that is more often. They are typically located on the conjunctiva and on the face. In the vast majority of patients, primary cell-humoral immunodeficiency is observed. Repeated and protracted infectious diseases are typical. Patients often develop chronic respiratory disorders. They also have an increased risk of malignancies. Laboratory findings usually include an increase in the level of alpha-fetoprotein and impaired immunological status: a decrease in T- and B- lymphocytes counts, and also a decrease in the levels of IgA, IgG, IgE. MRI of the brain shows signs of atrophy of the cerebellar vermis and hemispheres, which become more pronounced at a later age. The final diagnosis is made on the basis of the results of genetic testing, when mutations of the ATM gene are detected. The typical course of the disease and the steps of the diagnostic process are illustrated by our own clinical observation.