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Papers of the Week

2020 Apr 21




Sporadic Creutzfeldt-Jakob Disease: Case Report and Literature Review.


Filatov A, Khanni JL, Alusma-Hibbert K, Espinosa PS
Cureus. 2020 Apr 21; 12(4):e7767.
PMID: 32461843.


The proverbial "zebras" in neurology are often times missed due to their low prevalence and incidence in the community. The number of misdiagnoses and improper therapeutic interventions that occur are further increased when patients with these rare diseases present with signs and symptoms of more common disorders. One such disease is sporadic Creutzfeldt-Jakob disease (sCJD), a prion disease that causes neuronal derangement and classically presents as a rapidly progressing dementia with extrapyramidal signs, ataxia, behavioural problems, and myoclonus in the advanced stage. It falls into the category of neurodegenerative disease, which also includes Alzheimer's disease, Huntington's disease, Parkinson's disease, and other Parkinson-related diseases. Though these diseases have overlapping symptomologies – such as cognitive impairment and neuromuscular dysfunction – they can be differentiated from one another based on the time course of the illness and the specific constellation of signs and symptoms. Our case report describes a patient who was found to have sCJD after months of treatment for Parkinson's disease and trigeminal neuralgia. Thus, we are highlighting the importance of recognizing rare diseases so that proper management can be initiated in a timely manner. Furthermore, we review the current literature on the diagnosis and management of sCJD.