A Medical Mystery: Dizziness, Gait Disturbance, and Ataxia (continued)

For the patient described in last week’s update (JW Neurology Sep 11 2007), a test for the Creutzfeldt Jakob disease (CJD) protein (BP 14-3-3) was positive. In the next 4 days, the patient’s gait instability worsened. On examination, there were signs of cognitive deterioration in her slow responses and temporal disorientation as to years. The gait was wide-based. Ten days later, the patient became mute and more difficult to arouse, with tremor and startle myoclonus. An EEG at that time showed an abnormal pseudoperiodic pattern that at times resembled triphasic waves (Fig. 4). The patient underwent a brain biopsy, which showed features diagnostic of prion disease: The cerebral cortex showed widespread but patchy spongiform changes (Fig. 5 and Fig. 6), and immunohistochemical analysis with the monoclonal antibody 3F4 revealed granular deposits typically seen in prion disease. The patient had no mutation in the prion protein gene according to an analysis done at the National Prion Disease Pathology Surveillance Center. The patient remained alive at 10 months after initial symptoms.