Case report of Creutzfeldt-Jakob disease in a tertiary center: clinical manifestations and findings on complementary exams

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Case presentation: Report of 3 cases of probable Creutzfeldt-Jakob disease (CJD). A 69-year-old man, hypertensive and diabetic, started a progressive decline in executive, attentional, and memory functions a month ago, along with inverted sleep-wake cycle, apraxic gait, myoclonus and recently, akinetic mutism. Investigations revealed: Brain MRI with cortical hyperintensity in the left temporal lobe and gyral enhancement in the left parietal and frontal cortex on FLAIR; EEG with moderate baseline activity disturbance and generalized periodic activity (GPD); Cerebrospinal fluid (CSF) showing mild hyperproteinorrachia and presence of 14-3-3 protein. A 59-year-old man, hypertensive and dyslipidemic, developed progressive amnestic, dysexecutive, and aphasic symptoms over 2 months, later accompanied by gait ataxia, abnormal limb movements during sleep, myoclonus and physical examination revealed global hyperreflexia, frontal release signs, and upper limb dysmetria. Brain MRI: cortical enhancement in the left hemisphere and left basal nuclei with associated diffusion restriction; EEG: GPD with sharp wave complexes below 2.5 Hz; CSF: hyperproteinorrachia and presence of 14-3-3 protein. A healthy 59-year-old man presented with progressive spatial disorientation, executive dysfunction, gait ataxia, reduced verbal fluency, and behavioral changes over 2 months, progressing to complete dependence in activities of daily living. Physical examination revealed myoclonus and signs of pyramidal release (bilateral hyperreflexia and Babinski sign). Brain MRI: diffusion restriction in bilateral cortical and basal nuclei; EEG: rhythmic GPD at 1 to 1.5 waves per second. The patient died 3 months after symptom onset. Discussion: Sporadic CJD is considered the most common prion disease in humans. With long incubation periods and a rapid clinical course, definitive diagnosis is based on spongiform changes and abnormal prion protein accumulation in brain biopsy. Probable CJD is defined by neuropsychiatric disorder with a positive real-time quaking-induced conversion (RT-QuIC) test; or progressive dementia with two or more clinical features (myoclonus; visual or cerebellar disturbances; pyramidal or extrapyramidal dysfunction; akinetic mutism) and one or more supportive findings on tests (EEG with periodic sharp wave complexes; positive 14-3-3 in CSF with clinical duration less than two years; MRI with hyperintensity in caudate nucleus or putamen and/or in at least two cortical regions on DWI or FLAIR). Final comments: Although rare, sporadic CJD should be considered in the differential diagnoses of rapidly progressive dementia when typical clinical, electrophysiological, and neuroimaging features are present. The presence of 14-3-3 protein in CSF is not mandatory for diagnosis. The occurrence of three cases within a relatively short period underscores the importance of early clinical suspicion and detailed investigation for appropriate management of these patients.

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