An Atypical Presentation of Sporadic Creutzfeldt–Jakob Disease in the Setting of Chronic Alcohol Use Disorder

Sporadic Creutzfeldt-Jakob disease (CJD) is a rare but universally fatal condition with cardinal symptoms of rapidly progressive dementia and myoclonus. Wernicke encephalopathy (WE) is a reversible condition often presenting with the triad of altered mental status, ophthalmoplegia, and ataxia. Previous case reports have demonstrated overlap in the clinical features, imaging, and laboratory testing of CJD and WE. Here, we present the case of a 60-year-old female who presented with prominent aphasia and ataxia, lacking myoclonus and specific electroencephalogram (EEG) findings of CJD. Our patient's presentation was initially most suspicious for WE in the setting of alcohol use disorder, though maintaining a broad differential prompted extensive workup. Brain magnetic resonance imaging (MRI) was a key factor in distinguishing this case, as there were no lesions in the thalami, mammillary bodies, or periaqueductal gray matter, areas strongly associated with WE. Cerebrospinal fluid (CSF) testing for RT-QuIC, T-Tau protein and 14-3-3 GAMMA, and ultimately autopsy confirmed the diagnosis of sporadic CJD. We compare the clinical features, MRI, and EEG findings of our patient to those of similar cases, recognizing common areas of involvement that are also affected in WE. This case brings further attention to the variable presentation and clinical overlap of CJD with other neuropsychiatric diseases. We therefore endorse strong recommendations for maintaining a broad differential in patients presenting with nonspecific neurological complaints and promptly evaluating with MRI to better localize the affected areas.