Early diagnosis of a case of Heidenhain variant of Creutzfeld-Jakob disease by cerebrospinal fluid real-time quaking-induced conversion test.

PrionMar 27, 2026 (epub)
Case ReportNeurologyOpen access

Lin Li, Rong Yan, Jiawei Wang et al.

✦ AI-curated · Sources linked

Case in brief

A 65-year-old man developed blurred vision and diplopia, followed by rapidly progressive dementia and dysuria. MRI showed cortical diffusion-weighted hyperintensities in the right temporo-occipital region. Although CSF 14-3-3 testing was negative, CSF RT-QuIC was positive, supporting a final diagnosis of probable Creutzfeldt-Jakob disease with a Heidenhain presentation. He died 8 weeks after diagnosis.

What made this case unusual

Prominent visual symptoms marked the onset of this Heidenhain variant, while CSF 14-3-3 was negative despite a positive RT-QuIC result.

Diagnostic / clinical pearl

In suspected CJD with early visual symptoms, a negative CSF 14-3-3 result does not exclude the diagnosis; RT-QuIC may provide diagnostic support.

Source

PubMed · PMID 41894154Free full text on PubMed Central

Published in Prion. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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