Creutzfeldt-Jakob disease

Question 1

features?

Answer 1

rapidly progressive dementia, myoclonus ( provoked by startle ex: arm jerking), cerebellar signs ( ataxia), upper motor neuron signs ( hyperreflexia), extrapyramidal signs (hypokinesia), mood ( depression) and/or sleep disturbances (hypersomnia).

Question 2

findings?

Answer 2

MRI: widespread atrophy (cerebrum and cerebellum), cortical enhancement ( cortical ribboning), enhancement of putamen and caudate head ( hockey stick sign ). CSF: normal routine analysis (no WBC, normal glucose, elevated or normal protein that is noninflammatory), positive 14-3-3 protein titers (prion), elevated tau protein, positive RT-QuLC (real-time quaking-induced conversion) test. EEG: sharp, triphasic, synchronous discharges. neuropath: spongiform degeneration without inflammation.

Question 3

management and prognosis?

Answer 3

symptomatic treatment, counseling, social services referral. no effective disease-modifying therapy, fatal in <12 months.