(Kiosk 4) The Role of Physiatry in a Newly Diagnosed Patient with the Heidenhain Variant of Sporadic Creutzfeldt Jakob Disease

Case Diagnosis: Heidenhain Variant of Creutzfeldt Jakob Disease (CJD)

Case Description or Program Description: A 60 year old female presented on 1/4/23 with worsening visual disturbances that began on 12/5/22. Her visual deficits had progressed from intermittent blurry vision to recurrent episodes of complete vision loss with impaired depth perception and balance. An Ophthalmologist evaluated her and was unable to find evidence of ocular disease that explained her vision loss. Shortly after hospitalization her symptoms progressively worsened. Physical exam was remarkable for agraphestheisa, finger agnosia, astereognosis, ocular motor apraxia, optic ataxia, dystonia in her left hand, and left shoulder myoclonic jerks. Psychiatry ruled out a Conversion Disorder as the cause of her symptoms. She scored a 25/27 on the MMSE and it was felt her symptoms could be explained by a neurodegenerative disorder. Within 3 weeks of hospitalization, she developed akinetic mutism.

Setting: Academic Medical Center

Assessment/Results: Neuroimaging did not reveal any intracranial, spinal cord, or ocular nerve lesions. EEG findings showed diffuse slowing with focal slowing and 0.8-1.2 Hz paroxysmal discharges most severe in the parieto-occipital region. CSF studies revealed increased protein (56 mg/dL) and increased neuron specific enolase (53 ng/mL). 14-3-3 protein was detected in the CSF. Further CSF analyses showed a positive RT-QuIC assay.

Discussion (relevance): This patient’s isolated visual disturbances at disease onset without evidence of ocular disease, CSF studies, and EEG findings confirm the diagnosis of the Heidenhain Variant of CJD. Although the patient passed away prior to completing her full post-acute care rehabilitation stay, inpatient rehabilitation is appropriate for patients with CJD to help maximize functional independence, maintain QoL, and establish a relationship with palliative care in anticipation of eventual hospice needs.

Conclusions: Patients with CJD would benefit from inpatient rehabilitation prior to eventual transfer to hospice care to maximize functional independence and assist with management of secondary complications such as seizures, neuropathy, and mood disturbances.