Probable and "definitive" diagnosis of a formidable disease : Creutzfeldt-Jacob disease

A 75-year-old female with rapidly progressive dementia, pyramidal and extrapyramidal signs, myoclonus, and mutism received a diagnosis of probable sporadic Creutzfeldt-Jakob disease (sCJD) after eliminating other possible candidates, such as normal pressure hydrocephalus (NPH), some form of encephalopathy, and so on. However, postmortem brain biopsy revealed the case to be non-CJD. Facing the triad of progressive dementia, myoclonus, and pyramidal/extrapyramidal features, Alzheimer\u27s disease (AD) should be retrospectively considered if the disease course is long and dementia with Lewy bodies (DLB) is the differential diagnosis if Parkinsonism is present. Findings on electroencephalogram (EEG) or in cerebrospinal fluid (CSF) typical of CJD do not exclude AD or DLB