Objective: To report unusual presentation of Creutzfeld Jacob disease (CJD) with bizarre movements and functional characteristics.

Background: Prion disease is most commonly due to CJD and classically presents with dementia, myoclonus and ataxia. Though presentation can be variable, there have been few reported cases presenting with functional movements.

Method: Previously healthy 53 y.o. white male presented with progressive bizarre movements. Two months prior to presentation, he noted mild sleep changes. He fell on his elbow and reported R hand numbness and clumsiness, worsening over the next month. He developed incoordination in the R arm, myoclonic jerks and ballistic movements that spread into his R side, then his whole body. Gait & balance declined, but cognition remained intact and he continued to manage his own business through a high stress buy-out.  He presented to outside hospital where stroke/cardiac work up and NCS/EMG of right arm were normal: he was discharged with suspected psychogenic disorder. He subsequently presented to our clinic with gait disturbance and constellation of bizarre movements including multifocal myoclonus, ballismus, scissoring, clapping, and flailing that were distractible and variable in direction and frequency. These improved on low dose clonazepam, but the next week he deteriorated and was admitted with worsening ataxia.

Results: MRI brain unremarkable. EEG showed minimal slowing. CSF revealed 7 WBCs, elevated protein of 53 but was otherwise normal with no oligoclonal bands and negative 14.3.3 protein. He developed rapidly progressive dysarthria & dysphagia and became obtunded. Serum paraneoplastic panel revealed elevated voltage gated K+ channel Abs but antineuronal Ab panel was negative (CASPR, LGI1 Abs). Extensive paraneoplastic work up was negative. He was treated for presumed autoimmune encephalitis with IV dexamethasone, plasmapheresis, IVIG, rituximab without improvement. Subsequent EEGs showed generalized slowing with mix of multifocal epileptiform discharges and triphasic waves. Repeat MRI showed restricted diffusion with corresponding areas of T2 prolongation in cortex and deep gray nuclei. One month after admission, LP was repeated and CSF revealed positive 14.3.3, elevated tau and RT QuIC.

Conclusion: CJD can present with functional characteristics, and this diagnosis should be considered when evaluating unusual or functional movement disorders.

« Back to 2019 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/creutzfeld-jacob-disease-presenting-with-functional-appearing-bizarre-movements-without-significant-cognitive-impairment/