Gene/Protein
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Pivot Concepts:
Gene/Protein
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Target Concepts:
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Query: UMLS:C0344232 (
blurred vision
)
2,072
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease. 2329 37
