Creutzfeldt-Jakob disease

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Summary of Creutzfeldt-Jakob disease

Creutzfeldt–Jakob disease is a degenerative neurological disease caused by prions that is incurable and invariably fatal. Over the course of weeks to months, it causes the brain tissue to degenerate rapidly, and the cortex develops holes and the texture changes to resemble that of a kitchen sponge. Symptoms include rapidly progressive dementia with myloclonus. The disease is usually sporadic, but familial forms do exist.

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Creutzfeldt-Jakob disease

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Creutzfeldt-Jakob disease

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Creutzfeldt-Jakob disease is a cause of irreversible dementia that progresses to death over the course of (weeks to months/many years) .

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A 27-year-old woman comes to the emergency department because of a seizure. Her temperature is 37.6°C (99.7°F), pulse is 112/min, respirations are 17/min, and blood pressure is 120/80 mm Hg. She has an 8-month history of slurred speech, memory loss, ataxia, and myoclonic jerks. Laboratory studies show an elevated ESR and blood cultures are negative. CSF is positive for 14-3-3 protein. An MRI of the brain shows mild diffuse volume loss and the pulvinar sign. A tonsil biopsy sample is positive for the abnormal prion protein (PrP^Sc). Which of the following is the most likely diagnosis?

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