Sporadic CJD (VV2 Type) Presenting with Central Vestibular Abnormalities (P03.259)

Résumé fourni par la source

Objective: To demonstrate that Creutzfeldt-Jakob Disease (CJD) VV2 may present with only isolated ataxia on exam and to discuss abnormal neuro-vestibular testing in its relation to CJD and other CNS disorders. Background CJD is a rare and invariably fatal neurodegenerative disorder associated with abnormal accumulation of the protease resistant form of the prion protein in the central nervous system. Sporadic CJD (sCJD) is idiopathic and accounts for 80-85% of prion disease. Classically, sCJD has been known for its triad of progressive dementia, generalized myoclonus, and periodic sharp and slow wave complexes on EEG. sCJD VV2 is the second most frequent genotype accounting for around 16% of cases of sCJD. Design/Methods: Case report of a 76 year old female who presented to Ohio State University Medical Center with ataxia of unknown etiology found to have Sporadic Creutzfeldt-Jakob Disease VV2. Results: Patient had normal labs and imaging including a MRI Brain and PET Scan. She had abnormal neurovestibular testing suggestive of a CNS process. Patient also underwent Lumbar Puncture that was unremarkable except for elevated Neuron Specific Enolase, a positive 14-3-3 protein and elevated tau protein of 6378 pg/ml. Subsequent pathology on autopsy confirmed the diagnosis of Sporadic Creutzfeldt-Jakob Disease VV2. Conclusions: CJD VV2 can present with normal imaging including Brain MRI and PET scan, without the classic findings of CJD and with only isolated ataxia on exam. It is therefore of utmost importance for clinicians to remember that a lumbar puncture may be indicated in cases of isolated ataxia of unknown etiology to rule out sCJD VV2. In addition, abnormal neurovestibular testing was found to be an initial presenting abnormality in this case. Further studies on the importance of neurovestibular testing in cases of CJD and other Central Nervous System disorders may be warranted. Disclosure: Dr. Mandel has nothing to disclose. Dr. Oas has received personal compensation for activities with GlaxoSmithKline, Inc. as a speaker.