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1523 - From Stroke Mimic to Creutzfeldt-Jakob Disease: A Diagnostic Challenge in Neurorehabilitation

Thursday, February 27, 2025

5:00 PM - 6:30 PM MST

Presenting Author(s)

CM

Christiana Montoya-Reeve, MD

Resident Physician
University of Chicago/Schwab Rehabilitation Hospital
Chicago, Illinois, United States

Co-Author(s)

MM

Mira Modi, DO

Resident Physician
University of Chicago/Schwab Rehabilitation Hospital
Chicago, Illinois, United States

Presenting Author(s)

AS

Ardeshir J. Shojaee, BS

Medical Student
Midwestern University Chicago College of Osteopathic Medicine
chicago, Illinois, United States

Co-Author(s)

GA

Ghada R. Ahmed, MD

Attending Physician
Schwab Rehabilitation Hospital
Chicago, Illinois, United States

Case Diagnosis: This case initially presented as a bilateral basal ganglia stroke in a 50-year-old woman with atypical neurological symptoms, including severe ataxia, dysmetria, dysdiadochokinesia, cogwheel rigidity, and dystonia. However, after further investigation at the University of Illinois Chicago (UIC) Neurology, the patient was diagnosed with Creutzfeldt-Jakob disease.

Case Description: The patient, with a history of transient ischemic attacks (TIAs) and hypertension, initially presented with balance issues and hand tremor for 1-week duration. Work-up on admission included imaging with CT Head and MRI Brain, which reported findings of bilateral basal ganglia infarcts. However, the stroke work-up was incomplete, lacking essential evaluations such as lipid studies, HbA1c, and transthoracic echocardiogram. In addition, the patient was not started on antiplatelet and/or statin therapy. Upon admission to Schwab Rehabilitation Hospital, she showed left-sided weakness, dystonia, and impaired motor planning. Acute inpatient rehabilitation included physical, occupational, and speech therapy. Despite some initial improvements, her neurological status regressed with worsening motor planning, increased ataxia, dysarthria, and hallucinations.

Discussions: After significant acute regression in her motor and cognitive functions during rehabilitation, the patient was transferred to UIC Neurology for a more thorough neurologic workup. There, she was diagnosed with variant Creutzfeldt-Jakob Disease, a rare neurodegenerative disease caused by prions. This diagnosis explained her rapid functional decline and atypical presentation, which mimicked stroke-like symptoms. Given the prognosis, the patient was transitioned to hospice care.

Conclusions: This case underscores the diagnostic complexities when stroke-like symptoms present atypically. While the initial presentation and image findings suggested a bilateral basal ganglia stroke, the final diagnosis of Creutzfeldt-Jakob disease highlights the importance of consideration for differential diagnoses and in-depth diagnostic evaluations in atypical cases. Multidisciplinary coordination between neurology and rehabilitation teams is critical to optimize patient care regardless of outcome and prognosis.