Introduction: Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressing, fatal neurodegenerative brain disorder caused by prion proteins. Sporadic is the most common followed by genetic. Acquired cases are rare affecting young adults. The mean survival of sporadic CJD is 4-8 months, with 90% dying within 1 year. We present a case of CJD admitted to our ICU Description: 64 year-old male with history of schizoaffective disorder presented with altered mental status and failure to thrive. He had gradual decline over the last two years abruptly worsening over the last few months with difficulty ambulating, bowel and bladder incontinence and confusion with aphasia. MRI showed diffuse cortical T2 hyperintensities with a broad differential. Lumbar puncture was acellular with elevated protein at 63. CSF fluid was sent for protein 14-3-3, tau, HSV, and VZV. Neurology was consulted and started high dose steroids for possible autoimmune encephalitis. The patient did not improve despite being on keppra, vimpat, and high dose steroids. Unfortunately, his condition deteriorated and he passed away shortly after transitioning to comfort care. CSF labs returned postmortem showing a negative autoimmune panel, elevated Tau protein 2595 (0-1149), and elevated 14-3-3 gamma 19901 (173-1999). The family was notified of the autopsy result 4 months later which showed sporadic Creutzfeldt Jakob Disease Discussion: CJD presents with rapidly progressive cognitive decline, myoclonus, ataxia, visual disturbance, however it can mimic other diagnoses such as stroke, rapidly progressive dementia and autoimmune encephalitis. Reaching a diagnosis is challenging in the absence of myoclonus or underlying psychiatric history with unusual behavioral features. There is no disease modifying treatment for CJD and management focuses on symptom control and palliative care. This case emphasizes the importance of keeping CJD in the differential in any patient with acute cognitive decline and awareness of atypical presentations, as it may prevent diagnostic delays and unnecessary interventions. It also highlights the importance of history taking to help navigate through differentials. Early recognition and diagnosis may ultimately help guide patients and families with appropriate counseling and supportive care.
Panwar et al. (Sun,) studied this question.