Objective: We described clinical, radiologic, and neuropathological findings of a patient with Creutzfeldt-Jakob Disease who presented antemortem with clinical features suggestive of corticobasal degeneration.

Background: Corticobasal degeneration (CBD) is a progressive neurodegenerative disorder characterized by various combinations of motor and cognitive symptoms. Common clinical presentations include asymmetric rigidity, bradykinesia, dysarthria, cognitive impairment, limb apraxia, focal myoclonus, alien limb phenomenon and dystonia. An accurate diagnosis remains challenging due to significant overlap in clinical features with other neurodegenerative disorders.

Method: The brain bank for neurodegenerative disorders was queried for patients with clinical presentation of CBD, but neuropathologic findings of CJD.

Results: A 72-year-old left-handed man with a one year history of progressive cognitive decline, postural instability with recurrent falls, asymmetric rigidity predominantly affecting trunk and right arm, alien limb phenomenon and myoclonic jerks in the right arm, facial and right-hand dystonia, shuffling steps, short stride length, bilaterally reduced arm swing more prominent on the right side, en-bloc turns and positive pull test. MRI brain showed restricted diffusion in bilateral temporal, parietal, and occipital lobes with predominance on the right parietal lobe, EEG showed background slowing with no epileptiform discharges, or lateralizing signs. CSF analysis showed elevated total tau, and indeterminate RT-QuIC. Histopathologic findings showed loss of neurons, gliosis and spongiform degeneration of the brain tissue.

Conclusion: CJD should always be considered in the differential diagnosis with rapid rate of progression or atypical clinical course, even with initial clinical findings suggestive of CBD.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/creutzfeldt-jakob-disease-misdiagnosed-as-corticobasal-degeneration/