| Literature DB >> 23296137 |
Sara Gasparini1, Edoardo Ferlazzo, Damiano Branca, Angelo Labate, Vittoria Cianci, Maria Adele Latella, Umberto Aguglia.
Abstract
A 43-year-old woman presented with 1 month of progressive lower limb burning sensation, blurred vision, and gait disturbance. Her mother died of Creutzfeldt-Jakob disease (CJD). Neurologic examination revealed only cerebellar ataxia. EEG revealed periodic generalized discharges. MRI (figure 1) showed FLAIR hyperintensity in caudate and lenticular nuclei. Molecular analysis confirmed genetic CJD (PRNP E200K mutation). One month later, she became comatose. After 10 months, EEG showed diffuse background flattening without periodic abnormalities, and MRI (figure 2) disclosed diffuse pseudohypertrophy of cerebral cortex. MRI in this patient with end-stage CJD allowed us to reveal in vivo the macroscopic spongiform changes usually observed at autopsy.Entities:
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Year: 2013 PMID: 23296137 DOI: 10.1212/WNL.0b013e31827b92bd
Source DB: PubMed Journal: Neurology ISSN: 0028-3878 Impact factor: 9.910