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A Medical Mystery: Dizziness, Gait Disturbance, and Ataxia (continued)
The diagnosis and a discussion
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.
Comment: This patient presented with cognitive symptoms, which are found in 48% of patients with Creutzfeldt-Jacob disease; cerebellar symptoms, as are seen in 33% of patients; vertiginous symptoms, seen in 13%. Myoclonus, found in this patient, appears in up to 84% of patients. Ataxia is present initially in one third of the patients and ultimately develops in approximately two thirds. The final stage is characterized by akinetic mutism. Less than 10% of patients with pathologically confirmed disease live more than 2 years after onset. Triphasic waves, spike and wave complexes, or both may appear, followed by periodic sharp wave complexes, as in this patient. BP 14-3-3 may be reported in a range of non–prion-related diseases (e.g., encephalitis, cerebral infarction, and paraneoplastic neurologic disorders); thus, this test cannot be recommended as a screen for human prion disease. The final diagnosis of CJD, suspected clinically, was based on the brain biopsy.
— Jaime Toro, MD, Natalia Schroeder, MD, Maria Juliana Borja, and Adriana Díaz del Castillo.
Dr. Toro is a member of the Journal Watch Neurology Advisory Board. Dr. Schroeder is a Fourth-Year Resident, Programme of Neurology, Fundación Santa Fe de Bogotá, Universidad del Bosque, Colombia. Ms. Borja is a Research Assistant, Fundación Santa Fe de Bogotá. Ms. Díaz del Castillo is a Research Assistant, Fundación Santa Fe de Bogotá.
Published in Journal Watch Neurology September 18, 2007
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