Title : Rapidly Progressive Sporadic Creutzfeldt-Jakob Disease (CJD): A Case Report and Literature Review
Abstract:
Prion diseases are rare and rapidly progressive neuro-degenerative disorders that are poorly understood. Universally fatal, diagnosis primarily focuses on the excluding other treatable diseases. This case of probable sporadic Creutzfeldt-Jakob Disease (sCJD) in an otherwise healthy 61-year-old male outlines presenting symptoms and disease course. Diagnosis was supported by a positive RTQuIC and detection of 14-3-3 and T-tau proteins in the cerebrospinal fluid. Notable lab findings included oligoclonal bands and elevated natural killer cells. Treatment with corticosteroids, IVIG, levetiracetam, and carbidopa-levodopa were ineffective, while benzodiazepines provided symptomatic relief. This case report and literature review identifies the importance of including sCJD as a differential for patients presenting with rapidly progressive motor and cerebellar dysfunction with constitutional symptoms for early identification of the disease.
What will audience learn from your presentation?
• Recognition of the atypical characteristics of an especially rapid clinical course of a patient with CJD for early accurate diagnosis.
• Diagnostic value of various tools used in aiding diagnosis in this patient such as protein 14-3-3, t-tau protein, RT-QuIC, EEG, and MRI.
• Novel findings of diagnostic testing in this patient’s cerebrospinal fluid that can potentially aid in understanding the pathophysiology and enhancing diagnostic tools for CJD.
• Variable efficacy of treatment with levodopa-carbidopa, levetiracetam, corticosteroids, IVIG, and clonazepam in this patient.
