Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038220 (status epilepticus)
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Creutzfeld-Jakob disease (CJD) is a rare neurodegenerative condition characterized by rapid progression and fatal outcomes. Patients with progressive dementia and associated atypical features should be investigated, especially with the MRI brain for CJD. Cortical ribboning on diffusion-weighted MRI images is a very crucial diagnostic sign for CJD. Here we present a case of a 52-year-old woman admitted to the hospital after a seizure episode and two-month history of altered mental status. She presented with a 40-minute episode of status epilepticus, necessitating admission to the intensive care unit. Head CT showed no acute intracranial abnormalities, and MRI showed generalized brain atrophy. Electroencephalography (EEG) demonstrated an intermittent slowing of the left hemisphere. Two weeks after admission, she got discharged. Four days later, she presented to the hospital after being found disoriented in a park. MRI showed ventricular dilation and a questionable focus of restricted diffusion in the left thalamus posteriorly. CJD protein panel was collected. Three days after discharge, she was brought to the hospital, and CJD protein testing revealed the presence of 14-3-3 protein, elevated T-tau, and negative real-time quaking-induced conversion (RT-QuIC). The National Prion Disease Surveillance Center reviewed her case, and the CJD diagnosis was confirmed.
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PMID:Creutzfeldt-Jakob Disease With Atypical Magnetic Resonance Imaging Features. 3328 71