An Atypical Presentation of Prion Disease with Alien Limb, Apraxia, and Intact Cognition (P2.1-035)
Saima Chaudhry, Matthew Wodziak
Neurology Apr 2019, 92 (15 Supplement) P2.1-035;
[h=2]Abstract[/h] Objective: To report an atypical presentation of Creutzfeldt-Jakob disease with preserved cognition, alien limb phenomenon, and apraxia.
Background: Creutzfeldt-Jakob disease (CJD) is a neurodegenerative condition caused by the accumulation of misfolded prion protein that is rapidly progressive, invariably fatal, and typically characterized by acute neurocognitive decline and myoclonus. In this case, a 66-year-old previously healthy woman with a past medical history of essential tremor and recent tick bite presented with involuntary left hand movements and was found to have left hand apraxia and alien limb phenomenon.
Design/Methods: N/A
Results: The patient?s initial neurologic examination was normal other than observed left arm apraxia and mildly brisk reflexes in that arm. She described the left arm as ?not doing what I want.? MRI brain scan and serum labs were normal. The patient was eventually admitted to the hospital for progressive symptoms of difficulty ambulating, double vision, left hemibody paresthesias and increased tone, and involuntary rapid left arm movements consistent with myoclonus. Other than mild sleep disturbance, her orientation and cognition remained intact. CSF studies revealed elevated tau, low GAD 65 Ab, and positive 14-3-3. EEG showed intermittent slowing. Repeat MRI brain showed evidence of right cortical ribboning. She underwent an empiric trial of steroids and IVIG without improvement. CSF RT-Quic returned positive for CJD. The patient was discharged to another facility for second opinion however her neurocognitive status rapidly declined. She was ultimately transitioned to comfort measures and passed away within weeks.
Conclusions: Sporadic CJD is idiopathic and accounts for ~85% of prion disease. Although it classically presents with progressive dementia and myoclonus, atypical presentations can occur and may delay diagnosis. This case was remarkable for a cortical apraxia far out of proportion to cognitive issues. Urgent and thorough investigation should be considered to prevent diagnostic delay and focus care on symptomatic management and patient end-of-life wishes.
Disclosure: Dr. Chaudhry has nothing to disclose. Dr. Wodziak has nothing to disclose.
