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

Area of Science:

• Neurology
• Neuroscience
• Infectious Disease

Background:

• Acute ischemic cerebrovascular accident (CVA) is a critical diagnosis requiring swift intervention.
• Cerebrovascular mimics pose significant diagnostic challenges in emergency settings.
• Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal dementia caused by protein misfolding.

Observation:

• CJD can present symptomatically similar to acute ischemic CVA, complicating initial diagnosis.
• Diagnostic tools for CJD include Magnetic Resonance Imaging (MRI), electroencephalogram (EEG), and specialized cerebrospinal fluid (CSF) analysis.
• While diagnosis can be confirmed postmortem, live patient diagnosis is possible with specific neurological assessments.

Findings:

• CJD is a fatal neurodegenerative disease with a rapid progression, typically leading to death within months.
• Neurological examination, MRI, EEG, and CSF studies are crucial for differentiating CJD from other neurological emergencies.
• Prompt identification allows for appropriate patient management and palliative care consultations.

Implications:

• Emergency clinicians must consider CJD as a potential diagnosis in patients presenting with stroke-like symptoms and rapid neurological decline.
• Advocating for specialized CSF testing is vital for accurate CJD diagnosis in the emergency department.
• Considering CJD facilitates timely palliative care discussions and management planning for affected patients and families.