Creutzfeldt-Jakob disease (CJD) is a rapidly progressing dementia without effective treatment options. Death usually occurs within 6 months. Brain biopsy is the gold standard diagnostic test for definite CJD, nevertheless the 2010 CDC diagnostic criteria for CJD highlighted several supportive tests that may help with the clinical diagnosis including EEG, MRI, and the presence of 14-3-3 in the CSF. More recently, the RT-QuIC test has been developed which can detect the abnormal prion protein directly in the CSF and nasal mucosa and is considered to be highly specific.

We describe a 68 year old previously high functioning female who presented with a 5 week history of rapidly progressive encephalopathy in the setting of carbon-monoxide exposure, initially thought to be carbon-monoxide induced Parkinsonism. The patient received an extensive work up for other causes of progressive dementia including an electroencephalogram revealing generalized periodic discharges, a Magnetic Resonance Imaging (MRI) which was unremarkable, and an elevated cerebrospinal fluid 14-3-3. Additional CSF was sent to the National Prion Disease Pathology Surveillance Center (NPDPSC) at Case Western Reserve University in Cleveland, which revealed a positive RT-QuIC.