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Título

Case report: late presentation Creutzfeldt-Jacob disease

RESUMO

CASE PRESENTATION: An 88-year-old female patient, previously functional, presented with gait disturbance, progressive involuntary movements, dysphagia, dysarthria and altered cognitive status with an evolution of only 3 months. In the evaluation, the patient presented with eye opening to verbal stimuli, non-contacting, non-responsive to commands, in akinetic mutism, with spasticity and myoclonus in the 4 limbs, in addition to signs of frontal release. In view of the rapid cognitive decline and loss of important functionality associated with myoclonus, investigation for rapidly progressive dementias (RPD) was initiated. Cranial magnetic resonance imaging (MRI) showed areas of restriction to diffusion in the cortical region, bilateral, predominantly on the left, in addition to an electroencephalogram with a periodic sharp-wave complexes, filling in, after ruling out other causes of PRD, diagnostic criteria for Creutzfeldt-Jakob disease (CJD).
DISCUSSION: CJD belongs to a group of degenerative diseases caused by infectious protein particles (prions), which are pathogenic forms caused by the conversion of normal prion protein into its abnormal isoform. This process is replicated exponentially, which explains the rapid development of the disease. Clinical diagnosis is based on a set of symptoms and complementary exams, including CSF, EEG and MRI. The classic phenotype is rapidly progressive dementia with behavioral changes, ataxia (usually in gait), extrapyramidal signs and myoclonus. The EEG demonstrates periodic complexes of sharp waves, whereas the MRI may present with diffusion restriction in the cortex or in the basal ganglia. CSF is usually normal and the usefulness of biomarkers such as 14-3-3 is still controversial due to the variability of sensitivity and specificity. The disease is inevitably fatal, with an average survival of 6 months, as there is no specific treatment to date.
FINAL CONSIDERATIONS: CDJ affects many areas of the brain, so it can present itself as a multiform and it can also mimic, particularly early on, many other neurological and psychiatric conditions, which can delay diagnosis. However, despite having no specific treatment, it is highly stigmatizing, and its suspicion and diagnosis are important for a better management of symptoms.

Palavras Chave

Creutzfeldt-Jacob disease; prions; dementia

Área

Neurologia Cognitiva E Do Envelhecimento