[Difficulties in lifetime diagnosis of Creutzfeldt-Jakob disease]

Creutzfeldt-Jakob disease (CJD) is a classic representative of the group of prion diseases and is characterized by progressive degeneration of the structures of the nervous system with a variety of neurological symptoms, steady progression and inevitable death. The disease is based on a change in the tertiary structure of the protein, which leads to disruption of the normal functioning of cells. Despite the fact that the etiology and pathogenesis of CJD are now well studied, intravital diagnosis of this serious disease remains difficult due to the peculiarities of the pathological process (unusually long incubation period, variety of clinical symptoms), the lack of pathognomonic markers that make it possible to make a diagnosis with a high degree of confidence, and also insufficient awareness of medical workers. At the same time, differential diagnosis of the disease, aimed at excluding potentially curable conditions, remains relevant. In this review, the authors analyze information about CJD, from the description of the first cases of the disease in the first half of the 20th century to modern diagnostic criteria, with an emphasis on intravital diagnosis of CJD with a detailed description of instrumental methods: electroencephalography, magnetic resonance imaging of the brain). A description of our own clinical observation is also provided, which analyzes the possibilities of making a correct diagnosis in the neurological department of a multidisciplinary medical institution. Despite the fact that an effective treatment for CJD has not yet been developed, its correct diagnosis is extremely important, since the unique resistance of prions to traditional methods of processing instruments and the possibility of iatrogenic transmission requires increased attention to the disinfection procedure and determines the need for strict recording of all cases of this disease.