<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Sporadic Creutzfeldt–Jakob disease is a rare and fatal human prion disease characterized by a rapidly progressive dementia, myoclonus, cerebellar, pyramidal, extrapyramidal, visual, and psychiatric symptoms. These findings are all non-specific and making diagnosis is often difficult at the symptoms onset, especially in case of atypical clinical and radiological presentation. This case report describes a woman in her 60s, who presented with rapid cognitive decline, confusion, ataxia and electroencephalographic changes compatible with nonconvulsive status epilepticus. Her symptoms progressively worsened and she died 8 weeks after the onset. The two cerebrospinal fluid analyses were normal and no 14-3-3 protein was detected. The brain MRls revealed areas of cortical restricted diffusion involving the right frontal and parietal lobe. The electroencephalographic findings of continuous periodic generalized bi-triphasic complexes, typical for sporadic Creutzfeldt–Jakob disease, were detected 1 month after the onset. Sporadic Creutzfeldt–Jakob disease was neuropathologically confirmed. Although sporadic Creutzfeldt–Jakob disease is a rare neurodegenerative disease, it should be considered in the differential diagnosis of all cases with unexplained and rapid cognitive decline and confusion, along with ataxia, pyramidal/ extrapyramidal signs, myoclonus and dysphagia.</p>
</abstract>

Sporadic Creutzfeldt–Jakob disease is a rare and fatal human prion disease characterized by a rapidly progressive dementia, myoclonus, cerebellar, pyramidal, extrapyramidal, visual, and psychiatric symptoms. These findings are all non-specific and making diagnosis is often difficult at the symptoms onset, especially in case of atypical clinical and radiological presentation. This case report describes a woman in her 60s, who presented with rapid cognitive decline, confusion, ataxia and electroencephalographic changes compatible with nonconvulsive status epilepticus. Her symptoms progressively worsened and she died 8 weeks after the onset. The two cerebrospinal fluid analyses were normal and no 14-3-3 protein was detected. The brain MRls revealed areas of cortical restricted diffusion involving the right frontal and parietal lobe. The electroencephalographic findings of continuous periodic generalized bi-triphasic complexes, typical for sporadic Creutzfeldt–Jakob disease, were detected 1 month after the onset. Sporadic Creutzfeldt–Jakob disease was neuropathologically confirmed. Although sporadic Creutzfeldt–Jakob disease is a rare neurodegenerative disease, it should be considered in the differential diagnosis of all cases with unexplained and rapid cognitive decline and confusion, along with ataxia, pyramidal/ extrapyramidal signs, myoclonus and dysphagia.

Sporadic Creutzfeldt–Jakob Disease

Clinic of Nervous Diseases, University Hospital “Alexandrovska”

Medical University Hospital “Sv. Ivan Rilski”

Kepler University Hospital, Johannes Kepler University

Department of Cognitive Science and Psychology

Acta Medica Bulgarica

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Sporadic Creutzfeldt\u2013Jakob Disease"}

Sporadic Creutzfeldt–Jakob disease is a rare and fatal human prion disease characterized by a rapidly progressive dementia, myoclonus, cerebellar, pyramidal,...

Sporadic Creutzfeldt–Jakob Disease

Publié en ligne: 29 juin 2024

Pages: 36 - 40

Reçu: 10 févr. 2024

Accepté: 13 mars 2024

DOI: https://doi.org/10.2478/amb-2024-0032

Mots clés
sporadic Creutzfeldt–Jakob disease, prion disease, brain autopsy, electroencephalo-gram

© 2024 S. Zhelyazkova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Sporadic Creutzfeldt–Jakob Disease

Publié en ligne: 29 juin 2024

Pages: 36 - 40

Reçu: 10 févr. 2024

Accepté: 13 mars 2024

DOI: https://doi.org/10.2478/amb-2024-0032

Mots cléssporadic Creutzfeldt–Jakob disease, prion disease, brain autopsy, electroencephalo-gram

© 2024 S. Zhelyazkova et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Mots clés
sporadic Creutzfeldt–Jakob disease, prion disease, brain autopsy, electroencephalo-gram