Case Presentation: A 70 year-old woman with hyperthyroidism, hypertension and diabetes presented with subacute progressive altered mental status and frequent falls. History obtained from family revealed a previously independently functioning woman until 4 months prior, when she began to demonstrate symptoms of forgetfulness and micrographia. Symptoms progressed rapidly requiring an inpatient psychiatric admission, a month prior to current presentation. She was treated for agitation and paranoia and discharged to assisted living on donepezil, with a diagnosis of dementia with psychiatric features. At current admission, physical exam was remarkable for agitation and labile affect with frequent emotional outbursts. Initial lab work-up was unremarkable. CT scan of the head and neck was notable only for chronic small vessel disease. Given the rapid progression of her symptoms, and negative preliminary workup, a thorough history was re-obtained from the patient’s family. Clinical course was not consistent with a typical presentation of Alzheimer’s dementia. Neurology consultation was obtained. Additional investigations included lumbar puncture and neuro-imaging. PET scan showed decreased uptake in the superior parietal lobe and posterior cingulate gyrus, which was consistent with Alzheimer’s disease. She was discharged back to her facility, again with a diagnosis of dementia; additional labs were pending at the time of discharge. Ultimately, testing was positive for CSF protein 14-3-3 and RT-QulC, consistent with a diagnosis of Creutzfeldt-Jakob disease (CJD).
Discussion: CJD is a neurodegenerative human prion disease. Its incidence in the general population is 1-1.5 per 1 million, but increases with age to 3.4 per million over the age of 50 years. The most common form is sporadic (85%), but inherited or familial forms do exist. The disease is invariably fatal within a year of onset of symptoms. CJD is suspected based on typical signs and symptoms and progression of the disease. Mental deterioration in the form of dementia, behavioral abnormalities, and deficits in higher function of memory, concentration and judgement are early signs. Mood changes such as apathy and depression, as witnessed in our patient are quite common. Myoclonus is another feature noted in a large number (90 percent) of patients. Although brain biopsy is the gold standard, according to the CDC presence of 14-3-3 protein and/or typical EEG pattern are diagnostic.
Conclusions: Rapidly progressive dementia in the absence of other clear causes of mental deterioration should raise suspicion for CJD. Thorough and accurate history taking is the clinician’s best tool. Although relatively rare, it is important for hospitalists to involve consultants and order investigations to clinch the diagnosis, as progression to death is rapid. Implications for infection control before and after patient’s death are important. WHO has infection control guidelines for CJD that should be followed.