Creutzfeldt-Jakob Disease (clinical case)

Abstract

In press

Background. Creutzfeldt-Jakob Disease (CJD) is a rare neurodegenerative disorder belonging to the group of transmissible spongiform encephalopathies caused by prion agents. Despite numerous studies, early diagnosis of CJD remains challenging due to the non-specific nature of symptoms in the initial stages and their similarity to other rapidly progressive dementias and psychiatric disorders.

Aim. To present a clinical case of the sporadic form of Creutzfeldt-Jakob disease with an emphasis on diagnostic difficulties and possibilities for confirming the diagnosis.

Materials and Methods. A 47-year-old female patient with progressive cognitive impairment, cerebellar ataxia, and extrapyramidal disorders was examined. Neurological assessment included evaluation of the level of consciousness, motor functions, and coordination. Laboratory investigations comprised ElectroEncephaloGraphy (EEG), Magnetic Resonance Imaging (MRI) of the brain, and cerebrospinal fluid analysis for specific biomarkers, particularly the 14-3-3 protein, which is an important marker for confirming the diagnosis of CJD.

Research Ethics. The patient was included in the study after providing informed consent. The study was conducted in full compliance with existing international and national bioethical standards and regulations (the Nuremberg Code and the WMA Declaration of Helsinki, 1964–2024) regarding ethical principles for medical research involving human subjects.

Results. The patient demonstrated characteristic clinical manifestations, including rapidly progressive dementia complicated by pronounced cerebellar ataxia and coordination disturbances. MRI findings revealed atrophic changes in the basal ganglia and cerebellum, which are typical of CJD. EEG showed periodic sharp-wave complexes, the main diagnostic criterion for this disease. Cerebrospinal fluid analysis revealed an elevated level of 14-3-3 protein, which further confirmed the diagnosis of CJD.

Conclusions. Considering the characteristic clinical manifestations, EEG and MRI changes, and the presence of the specific 14-3-3 protein in cerebrospinal fluid, the diagnosis of CJD was confirmed in vivo. Identification of these changes is a key step for timely confirmation of the diagnosis and determination of further patient management strategies. Given the rapid progression of CJD and the absence of etiotropic therapy, neuro-palliative care represents an essential component of management, enabling symptom relief and improvement of the patient’s quality of life during disease progression.

Keywords: electroencephalography, magnetic resonance imaging, 14-3-3 protein, cerebrospinal fluid, neuro-palliative care.