Introduction: Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease. Symptoms include rapidly progressive dementia, myoclonus and motor impairment. In Chile, there is a remarkably high incidence, which together with the lethality of it highlights the importance of early diagnosis.
Case report: A 64-year-old woman presented with vertigo, gait instability, dysarthria and diplopia. Physical examination revealed ataxia, dysmetria and dysdiadochokinesia. Magnetic resonance imaging and electroencephalogram were ordered, with findings suggestive of CJD. Patient’s condition deteriorated rapidly, developing dementia after 3 months and dying in the fourth month.
Discussion and conclusion: CJD variants may present without alteration of cognitive functions and nonspecific prodromes. Diagnosis requires a high index of suspicion, taking as essential tests the nuclear magnetic resonance and the measurement of 14-3-3 protein in cerebrospinal fluid. The increased incidence in Chile may be due to mutations and environmental factors, suggesting the need to thoroughly in vestigate the causes and develop appropriate treatments.
