Case Presentation: A 61-year-old female with rheumatoid arthritis was hospitalized for expedited workup of memory loss and gait imbalance. Family reported a progressive memory loss over one year with a more acute decline in the past two months. Her symptoms included forgetting conversations and searching for her mother who passed away. Neurologic exam was notable for asymmetric bradykinesia and ataxia with a wide-based, unsteady gait. Her symptoms were first reported at a recent pulmonology appointment for evaluation of a lung mass; biopsy was consistent with pulmonary coccidiomycosis. Further evaluation with Magnetic Resonance Imaging (MRI) brain showed diffusion-weighted (DWI) abnormalities involving the basal ganglia and cortex of the right frontal lobe. Based on the constellation of progressive dementia, cerebellar and extrapyramidal signs, and MRI findings, suspicion was high for sporadic Creutzfeldt-Jacob Disease (CJD). Disseminated coccidiomycosis was considered, but MRI findings and lack of meningeal symptoms made it less likely. Lumbar puncture (LP) revealed a negative cocci antibody, a positive RT-QuIC (Real-Time Quaking-Induced Conversion), and an elevated Tau ratio. A second MRI brain showed an increase in DWI signal involving the right pulvinar and medial thalamus (“hockey-stick sign”), consistent with CJD. Per neurology consultation, prognosis was estimated at 7 months, and involvement of hospice was recommended. Patient and family declined hospice in favor of discharge to rehabilitation with hope of functional recovery, but with understanding that hospice would be available in the future.
Discussion: Patients presenting with memory loss and various neurologic symptoms are encountered commonly, especially in an aging patient population. These patients are often hospitalized for diagnostic evaluation. Given its rarity, CJD may be overlooked in the differential diagnosis, particularly in patients without risk factors, which include family history for the genetic variants or history of recent brain procedure for the iatrogenic type. It is critical that hospitalists recognize key elements of the history and exam to make the diagnosis. CJD is typically diagnosed in patients between 55 and 75 years old. As the disease advances patients often develop rapidly progressive confusion, disorientation, and cognitive dysfunction. Most also present with coordination and movement changes, such as ataxia or extrapyramidal symptoms. Myoclonus during sleep is common and may be provoked by stimuli. Once suspicion arises, Neurology should be consulted promptly. Workup includes MRI of the brain; DWI typically shows abnormalities within the basal ganglia, thalamus, and cortex. Collecting all three biomarkers of cerebral spinal fluid 14-3-3 protein, total tau, and the RT-QuIC increases sensitivity for CJD, though 14-3-3 may not be included in CSF dementia panels as in our case.
Conclusions: The differential for rapidly progressive dementia with accompanying neurologic findings is broad. It is important for hospitalists to recognize the classic neurologic deficits caused by CJD, and pursue further workup with neurology consultation, MRI brain, and LP. Despite the lack of current treatment options for CJD, patients deserve a rapid diagnosis to allow for early engagement of supportive services. Hospitalists can play a pivotal role in recognizing this rare condition.