A 63 year-old male was evaluated for rapidly progressive dementia. His illness began with flu-like symptoms. One month later, the patient presented to the hospital for confusion and dizziness. At that time evaluation with complete blood count and cerebrospinal fluid (CSF) analysis showed patterns typical of chronic lymphocytic leukemia. Initial electroencephalogram (EEG) showed a spike of activity in the left temporal area and generalized slowing. Magnetic resonance imaging (MRI) of the brain was significant for hyper-intensity within the cerebral cortices in a ribbon-like pattern. The patient was treated for encephalitis with acyclovir and doxycycline.
Two months after his initial presentation, the patient’s symptoms rapidly escalated to dysarthria, ataxia, and a more labile mental status. An EEG was repeated which showed left temporal spike with secondary generalization into the right cerebral hemisphere suggestive of non-convulsive status epilepticus. CSF protein 14-3-3 results were positive, and the level of tau protein was 8015 pg/ml. The patient was treated with anti-seizure medications, steroids, and intravenous immunoglobulin. Eventually he became aphasic with myoclonus and developed ventilator-associated pneumonia. Four months into patient’s declining clinical course, his family withdrew care.
Creutzfeldt-Jakob Disease (CJD), a prion disease, occurs approximately in one per million people worldwide each year. This disease causes rapid mental deterioration in the form of pyramidal or extrapyramidal symptoms, cerebellar disturbance, or cortical dysfunction. Our patient presented with non-specific symptoms and mental deterioration. Steep neurologic decline, classically myoclonus, is usually seen during the later stages of the disease. CJD presents with a wide spectrum of clinical manifestations which tend to change throughout the course, making the diagnosis difficult. Neurodegenerative, infectious, neoplastic, and autoimmune diseases can also present with similar motor, behavioral, and cognitive manifestations.
Cerebrospinal fluid testing for protein 14-3-3 and tau protein levels should be obtained in patients suspected of having CJD. EEG findings are usually non-specific in early stages of CJD, and rarely does it show characteristic periodic complexes, a finding late in the course. Fluid-attenuated inversion recovery (FLAIR) and diffusion-weighted imaging (DWI) techniques of brain MRI have aided diagnostic methods because of their high sensitivity and specificity, even early in the disease course.
With the positive CSF 14-3-3 protein and highly elevated tau protein, supportive MRI findings, and evidence of declining clinical status despite treatment for infectious, autoimmune, and metabolic etiologies, we were highly suspicious of the diagnosis of CJD in our patient. Histo-pathological diagnosis is confirmatory; however, a brain biopsy was not pursued in our patient. Currently, there is no cure for CJD.
Creutzfeldt-Jakob Disease is a rapidly progressive dementia that is invariably fatal. The clinical manifestations of CJD are many, and confirming the diagnosis is difficult. Hospitalists should thoroughly evaluate patients with rapidly progressive dementia because vague clinical manifestations may obscure a potentially treatable cause. Although prognosis of CJD is poor, it is with hope that with early accurate diagnosis, therapeutic measures can be aimed at alleviating symptoms as the search for a cure continues.
To cite this abstract:Jamil I, Larriviere D. One in a Million: A Case of Creutzfeldt-Jakob Disease. Abstract published at Hospital Medicine 2015, March 29-April 1, National Harbor, Md. Abstract 550. Journal of Hospital Medicine. 2015; 10 (suppl 2). https://www.shmabstracts.com/abstract/one-in-a-million-a-case-of-creutzfeldt-jakob-disease/. Accessed April 4, 2020.