A Clinical Case of Louis-Bar Syndrome Associated with Epilepsy in an Adolescent

Abstract

The article presents a case of our own long-term clinical observation of Louis-Bar syndrome (congenital ataxia-telangiectasia) associated with epilepsy in 15-year-old girl. Peculiarities of the course and manifestation of clinical signs of Louis-Bar syndrome, a combination with epilepsy and multi-organ involvement in this patient were determined. This case demonstrates the complexity of early diagnosis of primary immunodeficiencies in children in combination with nervous system pathology. An early verification of the diagnosis requires a careful analysis of clinical and anamnestic data in conjunction with a differential search for the causes of recurrent infectious diseases in children with neurological disorders.

Keywords

• Louis-Bar syndrome
• epilepsy
• children.