What is the likely diagnosis? A. Leigh syndrome B. osmotic demyelination syndrome C. Wilson disease D. hypoxic ischemic injury E. Creutzfeldt-Jakob disease
E. Creutzfeldt-Jakob disease (CJD)
What type of CJD is this? A. Sporadic B. Acquired C. Familial
A. Sporadic. Globus pallidus hyperintensity reported in sporadic CJD.
True or false: CJD cannot occur via genetic mutations?
False. 10-15% of human prion disease cases are associated with dominant mutations in autosomal prion protein (PrPc) gene (PRNP) on chromosome 20. CJD can also be acquired via introduction of PrPc into healthy cells (1%), or sporadically from mutations of the normal host-encoded protein (85%).
Basal ganglia T1 and DWI hyperintensity. High cortical DWI signal.