Neurológia pre prax 2/2024

Ataxia telangiectasia or life in imbalance

Ataxia-telangiectasia (AT) is an autosomal recessively disorder characterized by slowly progressive cerebellar ataxia, telangiectasia and heightended sensitivity to ionizing radiation. The condition often leads to immunodeficiency, presenting as recurrent respiratory infections. Other clinical manifestations may include oculomotor apraxia or extrapyramidal symptoms. Furthermore, patients are predisposed to hematological malignancies and solid tumors. In children under the age of 10, AT represents the most prevalent cause of progressive ataxia. This article aims to raise awareness of AT, providing an overview of its diagnosis and available options for symptomatic therapy. To illustrate these aspects, I present two case reports from our department.

Keywords: cerebellar degeneration, oculocutaneous telangiectasia, immunodeficiency, cancer susceptibility, radiation toxicity