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