Creutzfeldt-Jakob Disease: Case Discussion and Imaging Review

A 65-year-old man initially experienced difficulty forming his tie and felt unsteady while driving. Days later, these symptoms were followed by periods of dizziness and vague episodes of confusion that he felt were “out of character.” The patient was extremely concerned, especially given a strong family history of strokes. With an unremarkable physical examination, laboratory tests, and brain imaging, the patient's symptoms were attributed to his inadvertent ingestion of codeine-containing medication and to multiple increasing life stressors, including recent prostatectomy for prostate cancer. One week later, the patient returned complaining of significant confusion, problems opening doors, and progressive difficulty performing activities of daily living. Physical examination at this time revealed the patient to be confused with notable psychomotor retardation. Decreased left arm swing was noted on gait exam. An electroencephalogram (EEG) showed findings of right temporal slowing. Because of this finding and the patient's deteriorating mental status, he was admitted for further evaluation. Repeat EEG demonstrated bihemispheric triphasic wave complexes. Cerebrospinal fluid cytology and cultures were normal, but cerebrospinal fluid protein 14-3-3 was abnormally elevated. Magnetic resonance imaging (MRI) of the brain revealed areas of diffusion restriction in the right cerebral cortex and right basal ganglia (Figure ​(Figure11). No abnormalities were found after extensive laboratory tests, including a metabolic panel and tests for syphilis, HIV, herpes simplex virus, human herpesvirus-6, C-reactive protein, antinuclear antibodies, folate, erythrocyte sedimentation rate, and homocysteine levels. Figure 1 (a, b, c) Multiple axial images from the patient's brain MRI demonstrate abnormal signal hyperintensity (arrows) at several cortical locations and in the caudate head on the diffusion-weighted sequence. (d, e, f) Less conspicuous signal hyperintensity ... His neurologic condition continued to deteriorate rapidly. Without effective treatment options, he was referred to hospice and succumbed to his disease process approximately 2 months from the time of initial presentation. A limited autopsy of the brain was performed at the National Prion Disease Pathology Surveillance Center at Case Western Reserve University in Cleveland, Ohio. An abnormal prion protein was detected and characterized by Western blot, histopathological studies, and immunohistochemical examinations. DIAGNOSIS: Sporadic Creutzfeldt-Jakob disease (sCJD). Genetic sequencing of the proteinase-resistant protein (PrP) ruled out the presence of a pathologic genetic mutation in the coding region of the PrP gene. Therefore, the prion disease in this case was not familial.