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Washington University Experience | PRION DISEASES | Prion Diseases | 16A0 Case 16 History
Case 16 History ---- The patient was a 62 year old woman with a history of hypertension, hyperlipidemia and hypothyroidism who presented with dementia with features of both insidious and rapid onset. She first reported cognitive symptoms in 2002 and from 2002 to 2010 is noted to have become more task-oriented and "scatter brained." This course worsened from 2005 to 2010 and her husband became more concerned that she started forgetting things. In the fall of 2010 she began to have unusual sensations which she described as "hotspots" that moved around her skin. She described them as a burning sensation but that they were not hot to the touch. During this time she also became lost while driving home (a 5 minute drive became 30 minutes) and she walked into her kitchen asking where her refrigerator was. By mid to late November, she stopped using the computer and would only use the phone when it was handed to her and she was told to talk. In late November, the patient was admitted to a hospital in Honduras with headache; a lumbar puncture showed elevated CSF pressure. EEG showed some slowing in the left temporal lobe. An MRI study was reportedly normal. The patient returned home from Honduras and the family had noticed increasing gait disturbance and word finding difficulties. She would repeat herself and had difficulty reading, difficulties thinking, a slow gait, and would tire easily. Diffusion-weighted MRI showed gyriform, cortical hyperintensity within the left parietal lobe and to a lesser extent the left frontal, right parietal, and posterior left temporal lobes. Cerebrospinal fluid (CSF) was negative for HSV, Ehrlichia, Babesia, Lyme disease, typhus, spotted fever, CMV, and West Nile virus. Serum was negative for Eastern equine encephalitis virus, and St.Louis encephalitis virus. EEG showed generalized slowing. From the end of December to the end of January the patient's condition rapidly progressed with poor short term memory and poor communication skills. She had balance difficulties and difficulty walking by herself. She became emotionally labile. Trips to the hospital disoriented the patient and she had to be sedated for an MRI scan. MRI on 1/2011 showed evidence of restricted diffusion involving the left greater than right cerebral cortex as well as the caudate nuclei bilaterally and was thought to be suspicious for Creutzfeldt-Jakob disease (CJD). CSF testing (January 2011) returned a tau concentration of 3879 pg/mL (decision point=1200 pg/mL), and a positive test for 14-3-3 protein. On 1/23/2011 the patient appeared to be sleeping peacefully, breathing shallowly and sporadically, but was non-responsive with fixed pupils and eventually passed away.
