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Washington University Experience | PRION DISEASES | Prion Diseases | 1A0 Case 1 History
Case 1 History ---- The patient is a 52 year old woman with a past medical history of obesity, thrombocytosis, and mild hypertension. In October 2009 after she fell and hit her head she developed leakage of fluid through her eye and blurred vision. An MRI was markedly abnormal and showed diffuse FLAIR signal changes in the cortex, a pattern thought consistent with Creutzfeldt-Jakob disease. CSF studies sent to the National Prion Disease Pathology Surveillance Center (NPDPSC) in Cleveland showed abnormal levels of tau protein and an equivocally elevated 14-3-3 protein level. ---- Subsequently she began to develop progressively worsening cognitive impairment at work, playing the piano, handwriting and spelling. She had significant difficulties with visuospatial memory and reproducing drawings of complex figures. The patient’s condition remained stable from January to March of 2010 and she continued to work. Electroencephalogram (EEG) in April 2010 showed a disorganized slow background rhythm with multifocal sharp waves and driving spike in wave discharges with 2 Hertz photic stimulation. She had difficulty dressing herself and was unable to function at work. She planned a trip with her friends but upon arrival at the airport she had not packed appropriately and her clothes were inside out. She did arrive at her layover destination in New York; however, per records, lost her passport and became lost in the airport for ~3 days. Following this episode the patient became quite concerned, decided to stop driving, and requested consultation at BJH. Brain MRI showed abnormal diffuse restriction within the cerebral cortices as well as within the bilateral putamen and posterior thalami thought consistent with CJD. She was in a hospice facility in November and prior to her death, she was in a metabolic coma but exhibited intact brainstem functions, pupillary responses, and withdrawal to pain. She died in mid-December 2010, a little over a year from her first symptoms.
At autopsy the weight of the unfixed brain was 1430g. The external and cut surfaces of the brain were unremarkable in appearance. Frozen brain specimens were sent to the NPDPSC and revealed abnormal protease resistant prion protein PrP 27-30 confirming the diagnosis of CJD (and not consistent with variant CJD).
