Early diagnosis of Creutzfeldt-Jakob disease by diffusion-weighted MRI.

Creutzfeldt-Jakob disease (CJD) is a rare human prion disease characterized by rapidly progressive dementia and myoclonus. Early and accurate clinical diagnosis might reduce unnecessary procedures and prevent iatrogenic transmission by organ transplantation. We report the timely diagnosis of CJD by virtue of newly-recognized characteristic findings on diffusion-weighted (DWI) MRI. A 68-year-old woman was admitted to evaluate language difficulties and personality changes. There was subtle slowness in cognition in the preceding year. One month earlier she developed mild forgetfulness and the tendency to repeat herself. One week before admission she had decreased comprehension but was otherwise highly functional. There was no significant personal or family medical history, and she used no medications. She was a retired nurse and never lived outside Virginia. The general examination was unremarkable. Her neurological exam primarily showed difficulties with word finding, comprehension, and clock drawing. The MMSE was 22/30. Blood counts, serum chemistries, urinalysis, and head CT were unremarkable. The DWI showed increased gyriform signal intensity in the bilateral parietal, left posterior temporal, left parafalcine and frontoparietal cortices, which was thought to be very suspicious for CJD. The CSF cell counts, protein, glucose, VDRL, and HSV PCR were normal or negative. The EEG showed mild slowing in the left hemisphere, and the CSF 14-3-3 protein was elevated. The patient was discharged to home. Five and 8 days after discharge her MMSE decreased to 18/30 and 14/30, respectively. Her vocabulary was now devastated and her gait unstable. Nineteen days after discharge she was alert but not oriented. The MMSE was 2/30, and there was startle myoclonus. The EEG now showed bilateral periodic complexes. She was enrolled in hospice and died 37 days after initial presentation. This case highlights for primary care physicians the importance and characteristic features of diffusion-weighted MRI in the early diagnosis of CJD. DWI is more sensitive than EEG or CSF 14-3-3 in detecting CJD. High signal areas on DWI occur before T2 relaxation time is affected and correlate with disease progression, EEG abnormalities, and neuropathologic changes.

Jasmin Jerez-Marte, MD, Sarah Akhunji, MD, Jon M. Sweet, MD, Donald Nolan, MD, R. Wayne Gandee, MD, and Russel H. Swerdlow, MD. Carilion Health System, Roanoke, VA. University of Virginia, Charlottesville, VA.