Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal neurodegenerative disorder caused by prion proteins. In about 85% of patients, CJD occurs as a sporadic disease with no recognizable pattern of transmission. Sporadic CJD (sCJD) can present with rapid cognitive and functional decline, memory deficits, myoclonus, pyramidal and extrapyramidal signs, and visual deficits. The large spectrum of phenotypic variability has made the recognition of prion diseases difficult, and given the rare incidence, it is not uncommon for it to be missed as a potential diagnosis. We present a highly unusual case of a 76-year-old woman with rapidly progressive sCJD who died within five weeks of presentation. Our case demonstrates a typical sequence of symptoms, with rapidly progressive dementia and cerebellar signs at disease onset and myoclonus later in the disease course.

Creutzfeldt-Jakob disease is a rare, transmissible neurodegenerative disorder, most prevalent between the ages of 50 and 70 years old, that is incurable and fatal. It\'s caused by a slow, infectious protein agent-designated prion. The most common clinical presentations are sleep disturbances, personality changes, ataxia, aphasia, visual disturbances, weakness, and myoclonus combined with progressive dementia. Here we report the case of a patient with disturbance of consciousness, restlessness, and myoclonia who died two weeks after admission. The analysis of his cerebrospinal fluid reveals that the presence of 14-3-3 protein was positive, which supports the diagnosis of Creutzfeldt-Jakob disease. Our observation underscores the importance of the quick fatality of this case.

Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and rapidly progressive form of dementia caused by the spread of a prion protein within the brain. Its real incidence is unknown since its definitive diagnosis requires histopathological analysis of brain specimens. However, novel tests that detect prion proteins in cerebrospinal fluid samples, such as the real-time quaking-induced conversion (RT-QuIC) technique, now allow the pre-mortem diagnosis of sCJD. Here, we report the first case of sCJD confirmed by RT-QuIC in Latin America, providing evidence of its diagnostic performance and clinical correlation.

Creutzfeldt-Jakob disease (CJD) is a rare syndrome of central nervous system caused by infectious protein called prion. There are four types of CJD: sporadic (sCJD), familial (fCJD), jatrogenic (jCJD) and variant (vCJD). The most frequent symptoms are rapidly progressing dementia, mioclonias, akinetic mutism and signs of cerebellum dysfunction. In sCJD, MRI often shows high signal intensity in the putamen and caudate nucleus on T2-weighted images while in vCJD pulvinar sign is often observed. 70% patients with CJD often has characteristic generalized periodic sharp wave pattern in electroencephalography. In case of 90% patients with CJD 14-3-3 protein is present in cerebrospinal fluid. Neuropathological studies play an important role in disease diagnosis. CJD incidence is 0.5-1 on 1000000 people but some cases can be undiagnosed. Presented study is a description of woman with sCJD confirmed with histopathological study. Since childhood patient had psychotic symptoms and behavior disturbances. Patient wasn\'t diagnosed due to this symptoms. Few months before admission to hospital her condition was getting worse. Symptoms of cerebellum, pyramidal and extrapyramidal system occurred. In cerebrospinal fluid 14-3-3 protein was detected. In EEG and MRI changes specific for sCJD was observed. After three months patient died.