A 67-year-old female with history of chronic kidney disease presented with 3 weeks history of confusion, difficulty walking, and visual hallucinations. Initially, she was alert and oriented without any focal neurologic deficit. Her labs were unremarkable including normal RPR, B12, TSH, and folate. MRI brain showed diffuse bilateral cortical laminar necrosis. EEG showed diffuse slowing. Lumbar puncture results were normal. No organisms were detected. Few days later, she developed jerking movements and seizure-like activity. Paraneoplastic antibodies and autoimmune work up were negative. Neurological status continued to deteriorate. Intravenous steroids were started and 1 week after that she became more alert, followed commands but remained nonverbal, with facial expressions and groans. CSF samples for protein 14-3-3, neuron specific enolase, S-100, thymosin, and tau protein were sent. Interestingly, results were positive for 14-3-3 protein and other markers with high T-tau protein (11673 pg/ml) suggestive of > 75% prion disease probability. Two weeks later, the patient expired.
Altered mental status is a very common presentation that we encounter daily in hospitalist practice. Approximately one case of sporadic CJD occurs per 1,000,000 population per year. The mean age of onset is 57-62 years. In contrast to other neurodegenerative dementias, prion diseases are transmissible between individuals. Prions are difficult to remove and/or inactivate with routine methods, and evidence of accidental CJD transmission in the health care setting has been documented. In suspected sCJD, the importance of timely, accurate diagnosis is accentuated by the need to manage the risk of secondary exposure to prion infectivity. While brain biopsy is the gold standard test for diagnosis, it is often unnecessary. A typical clinical presentation with corroborating findings on MRI, EEG and CSF with protein 14-3-3 are in most cases sufficient to exclude other causes and establish CJD as the probable diagnosis. There is no effective treatment for CJD which is uniformly fatal. Death usually occurs within one year of symptom onset with a median disease duration of six months.
Diagnosing CJD in a patient with rapidly progressive altered mental status and dementia is crucial because of the transmissibility, the epidemiological significance and because many aspects of the disease are still unknown. Hence every case can be the source of a new data and the question remains, are we underdiagnosing CJD?
To cite this abstract:Hassan A, Mahmoud S, Rajput P, Altamiranoufion A, Denise-Espina T. An Unusual Presentation of a Rare Disease: Are We Underdiagnosing Creutzfeldt-Jakob Disease?. Abstract published at Hospital Medicine 2016, March 6-9, San Diego, Calif. Abstract 750. Journal of Hospital Medicine. 2016; 11 (suppl 1). https://www.shmabstracts.com/abstract/an-unusual-presentation-of-a-rare-disease-are-we-underdiagnosing-creutzfeldt-jakob-disease/. Accessed March 30, 2020.