# Hereditary Creutzfeldt-Jakob Disease: A Case Presentation of a Rare Stroke Mimic

**Authors:** Rachel E Bridwell, Jessica A Barlow, Andrew R Jacobson, Angela Curell, Brit Long

PMC · DOI: 10.7759/cureus.55559 · Cureus · 2024-03-05

## TL;DR

This paper presents a rare case of Creutzfeldt-Jakob disease, a fatal dementia that can mimic a stroke, highlighting the importance of accurate diagnosis.

## Contribution

The paper contributes a case study emphasizing the diagnostic challenge of Creutzfeldt-Jakob disease as a stroke mimic.

## Key findings

- Creutzfeldt-Jakob disease can present as an acute cerebrovascular accident mimic.
- Specialized CSF testing and MRI are crucial for diagnosing CJD in living patients.

## Abstract

Acute ischemic cerebrovascular accident (CVA) is a time-sensitive emergent diagnosis, requiring rapid diagnosis and consideration of thrombolytic administration. However, a myriad of cerebrovascular mimics creates a diagnostic challenge. A rare CVA mimic is Creutzfeldt-Jakob disease (CJD), a rapidly progressive fatal dementia due to protein misfolding. Magnetic resonance imaging (MRI) and neurology consultation for electroencephalogram (EEG) and specialized cerebrospinal fluid (CSF) studies are diagnostic while the patient is alive. All forms are fatal within months, and diagnosis can be confirmed on postmortem brain testing. While incredibly uncommon, emergency clinicians should consider this diagnosis in the proper patient to advocate for specialized CSF testing and potential palliative care consultation.

## Linked entities

- **Diseases:** Creutzfeldt-Jakob disease (MONDO:0005357)

## Full-text entities

- **Diseases:** Hereditary Creutzfeldt-Jakob Disease (MESH:D030342), cerebrovascular (MESH:D002561), CJD (MESH:D007562), dementia (MESH:D003704), CVA (MESH:D020521)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC10993755/full.md

## References

17 references — full list in the complete paper: https://tomesphere.com/paper/PMC10993755/full.md

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Source: https://tomesphere.com/paper/PMC10993755