einstein (São Paulo). 13/Aug/2024;22(Suppl 2):MV020.

Creutzfeldt-Jakob disease – sporadic form

DOI: 10.31744/einstein_journal/2024ABS_EISIC_MV020

Category: Neurology

Introduction:

Dementia is a syndrome characterized by cognitive and/or behavioral decline associated with significant functional impairment, predominantly affecting the population over 65 years of age. A subgroup of dementia syndromes has a more aggressive clinical course, leading to complete dependency within a few years, with Creutzfeldt-Jakob disease being the most predominant cause of rapidly progressive dementia.⁽⁾

Objectives:

To present a clinical case, discuss the clinical presentation, diagnostic criteria, differential diagnoses, and the challenges of managing the case in a public hospital scenario in São Paulo.

Case Report:

A 53-year-old female patient was diagnosed with Creutzfeldt-Jakob disease at a public hospital in the state of São Paulo ().

Conclusion:

Sporadic Creutzfeldt-Jakob disease is a rare encephalopathy with a fatal course. Reversible or treatable causes of rapidly progressive dementia should be ruled out through a comprehensive diagnostic investigation and a detailed clinical history to achieve an accurate and precise diagnosis. Tests such as Real-Time Quaking Induced Conversion and 14-3-3 protein measurement are not widely available in the public health system, leading to the underdiagnosis of sporadic Creutzfeldt-Jakob disease in Brazil.