Ataxia-telangiectasia (Louis-Bar syndrome): a clinical case
Year: 2025
Type: article
Study design: Case Report
Abstract: Ataxia-telangiectasia (Louis-Bar syndrome) is a genetic disorder inherited in an autosomal recessive manner, characterized by impaired deoxyribonucleic acid (DNA) repair. Clinically, it manifests as ataxia due to cerebellar degeneration, telangiectasia, severe immunodeficiency, a predisposition to cancer, and increased sensitivity to radiation exposure. Signs and symptoms of this primary immunodeficiency disorder are relatively specific; however, the diversity in disease course, multiple neurological symptoms, and variable clinical features often lead to delayed diagnosis and an unfavorable prognosis. Here we present a clinical case of Louis-Bar syndrome in 8-year-old patient, in which an extended diagnostic search ultimately led to the correct diagnosis. The first neurological symptoms appeared at the age of 3 months with the formation of clubfoot, strabismus, unsteady gait, and speech disorders by the age of 2. The child has been regularly treated in the neurological department. Immune dysfunction was manifested by autoimmune (pauciarticular juvenile rheumatoid arthritis) and allergic (allergic conjunctivitis and insect sting allergy) syndromes, as well as frequent infectious diseases and verified hypogammaglobulinemia. At the age of 8, the patient was sent for examination to the Department of Immunology of the Dmitry Rogachev National Research Medical Center, where full-exome sequencing was performed and a heterozygous mutation in the ATM c.5932G>T, p.(Glul978Ter) gene was found, thus confirming ataxia-telangiectasia (Louis-Bar syndrome).
Authors: N. S. Zaitseva, O. S. Selezneva, M. V. Skuratovich, Ya. V. Lipatnikova
Institution: Rostov State Medical University
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4408909229