Клинический случай синдрома Луи-Бар в сочетании с эпилепсией у подростка

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 immune deficiencies in children in combination with nervous system pathology. An early verification of the diagnosis requires a careful analysis of clinical data and anamnesis in conjunction with a differential search for the causes of recurrent infectious diseases in children with neurological disorders.