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- W2054031692 abstract "Creutzfeldt-Jakob disease (CJD) belongs to a group of prion diseases that may be caused by the abnormal folding of proteins called prion proteins. The ‘Heidenhain variant’ is a subclass of patients with CJD, who present with isolated visual symptoms at the onset without any cognitive decline. Here we report such a case of an elderly man presenting with progressive diminution of vision, forgetfulness, abnormal behaviour, myoclonic jerks and akinetic mutism since the last 5 months. On clinical examination, lead pipe rigidity was present in all four limbs, and plantars were bilateral extensors. In view of rapidly progressive dementia associated with myoclonus, a possibility of CJD was entertained. As visual symptoms preceded dementia, hence the Heidenhain variant was strongly suspected. MRI of the brain revealed cortical ribboning, and EEG showed periodic triphasic waveforms with background slowing. The patient succumbed to the illness within 1 month of hospitalisation." @default.
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- W2054031692 date "2013-01-29" @default.
- W2054031692 modified "2023-09-26" @default.
- W2054031692 title "Creutzfeldt-Jakob disease presenting with visual symptoms: a case of the 'Heidenhain variant'" @default.
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- W2054031692 doi "https://doi.org/10.1136/bcr-2012-008006" @default.
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