Journal
PRION
Volume 11, Issue 4, Pages 284-292Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/19336896.2017.1345416
Keywords
14-3-3 protein; anticonvulsant; convulsion; corticosteroid; encephalopathy; MRI; postmortem study; real-time quaking-induced conversion assay; total tau-protein; prion disease
Categories
Funding
- Research Committee of Prion Disease and Slow Virus infection
- Research Committee of Prion Disease Surveillance
- Ministry of Health, Labor and Welfare of Japan
- Grants-in-Aid for Scientific Research [15K09337, 17K09759] Funding Source: KAKEN
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We report an autopsy-verified case of steroid-responsive encephalopathy with convulsion and a false-positive result from the real-time quaking-induced conversion (RT-QUIC) assay. A 61-year-old Japanese man presented with acute onset of consciousness disturbance, and convulsions, but without a past medical or family history of progressive dementia, epilepsy, or prion disease. Brain diffusion and fluid-attenuated inverted recovery MR images revealed edematous cortical hyper-intensity, which diminished after the acute phase. Steroid pulse therapy was partially effective, although he continued to have dementia with myoclonus and psychiatric symptoms, despite resolution of the consciousness disturbance. Cerebrospinal fluid (CSF) analysis revealed a normal cell count, with significantly elevated levels of 14-3-3 protein and total tau protein. In addition, prion protein in the CSF was slowly amplified by the RT-QUIC assay. PRNP gene analysis revealed methionine homozygosity at codon 129 without mutation. The patient died of sudden cardiac arrest at 3 months after the onset of symptoms.The positive result from the RT-QUIC assay led us to suspect involvement of prion disease, although a postmortem assessment revealed that he had pathological changes after convulsion, and no prion disease. This case indicates that convulsion may cause false-positive RT-QUIC results, and that a postmortem evaluation remains the gold standard for diagnosing similar cases.
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