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Título

Creutzfeldt-Jakob disease and the challenges of the diagnostic investigation: a case report.

RESUMO

CASE PRESENTATION: A previously healthy 68 yo male initiated symptoms of imbalance and gait disturbance, followed by anterograde amnesia and impaired functionality. In the following weeks, he progressed with decreased verbal fluency and social interaction, worsening of gait and became completely dependent to perform daily activities. A month after the initial symptoms he was hospitalized with akinetic mutism, myoclonus, severe dysphagia, and dystonic upper limb posture. The initial investigation with electroencephalogram (EEG) and brain magnetic resonance imaging (MRI) showed no characteristic signs of the disease, despite the study of cerebrospinal fluid (CSF) showing the presence of 14.3.3 protein. The third performed EEG showed signs of diffuse encephalopathy and periodic generalized discharges that infer a high propensity to epileptic seizures, suggesting the possibility of prion disease. A posterior brain MRI showed cortical restricted diffusion and FLAIR hyperintensity on occipital lobes, head of caudate nucleus and putamen and DWI/ADC abnormalities in temporo-parietal cortex. Signal abnormalities were subtle on the previous MRIs but became more pronounced with the progress of the disease as well as the cerebral atrophy. Given the patient's clinical condition, associated with typical EEG and MRI and the protein 14.3.3 on CSF, the patient had diagnostic criteria for probable sporadic Creutzfeldt-Jakob Disease (sCJD). He was discharged after four months in hospital, taking anticonvulsants to control myoclonus. DISCUSSION: Prion diseases are rare and fatal degenerative diseases of the central nervous system, with an estimated annual incidence of 1 to 1.5 cases per million inhabitants. They can occur sporadically, genetically or acquired. SCJD is the most common form of them and its median survival is about six months. Although clinically variable, neuropsychiatric decline, cerebellar manifestations, myoclonus, and extrapyramidal signs are present in most cases. MRI has a diagnostic accuracy of 97%. EEG sensitivity increases in more advanced cases, requiring repetition throughout the clinical course. The sensitivity and specificity of the 14.3.3 protein is variable. CSF prion detection is the gold standard test for lifelong diagnosis. Treatment consists of clinical support. FINAL COMMENTS: This report describes a rare disease, emphasizing the importance of persisting in the complementary investigation, even in the face of uncharacteristic initial tests.

Palavras Chave

Creutzfeldt-Jakob disease; 14.3.3 protein; prion disease; degenerative disease.