The Creutz of a veteran's life: an emergency department presentation of rapidly progressive dementia and myoclonus-a case report.

BACKGROUND

Creutzfeldt-Jakob disease (CJD) is a universally fatal, rapidly progressive neurodegenerative disorder attributable to misfolded prion proteins. Emergency physicians should consider CJD in their differential in a patient presenting with altered mental status, especially those exhibiting rapidly progressive neurologic decline and cerebellar dysfunction on exam. Typical emergency department (ED) testing is non-diagnostic, but a lumbar puncture (LP) is a critical step to diagnosing this disease. Due to the infrequency of presentation, disposal of waste products for infection control can often be overlooked but does require special precautions. High suspicion and prompt detection through specialized cerebrospinal fluid (CSF) studies, in conjunction with neurology consultation, can play a pivotal role in the patient's care and diagnosis of this rare but devastating disease.

CASE DESCRIPTION: We describe a 75-year-old male presenting with rapid changes in mentation, functional ability, behavior and personality over a period of months. His neurologic exam demonstrated hyperreflexia, dysdiadochokinesia, and a "startle" response with pronounced myoclonus. More common CJD mimics were considered to exclude other reversible causes of infectious, metabolic, autoimmune, and endocrine etiologies without any findings. Due to the rapid onset of symptoms and abnormal neurologic exam findings, we proceeded with an emergent LP and prompt neurology consultation. Neurology recommended magnetic resonance imaging (MRI) and specialized CSF markers 14-3-3 protein, T-tau, real-time quaking-induced conversion (RT-QuIC) testing to be added on to the CSF with admission to their service. Approximately one week into his stay, the diagnosis was confirmed via the specialized CSF testing and MRI findings, providing his family with diagnostic answers for their loved one. Hospice was arranged and the patient passed away several weeks later surrounded by his family and friends.

CONCLUSIONS

Despite its rarity, CJD is on the rise and ED providers should have a high suspicion in patients with rapid neurologic decline. Performing a LP, advocating for brain MRI and neurology consultation can play a pivotal role in the patient's care. Understanding how this disease process spreads and how to properly dispose of waste products is essential for the hospital system and the ED provider.