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Sporadic Creutzfeldt-Jakob Disease (sCJD) is a rapidly fatal neurodegenerative condition that presents with progressive neuropsychiatric impairment, startle myoclonus, and cerebellum dysfunction. CJD is often on the differential diagnosis for various dementing illnesses, however is rarely included in patients presenting with cranial nerve (CN) palsies. Here we describe a case of autopsy-proven sCJD that presented with CN6 palsy and highlight the characteristic imaging findings.

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60-year-old male with history of hypertension presented with acute onset of dizziness and diplopia that was diagnosed as a right CN6 palsy by ophthalmology. Initial brain magnetic resonance imaging (MRI) showed diffusion restriction isolated to the caudate and putamen leading to a diagnosis of stroke at outside hospital. Exam during neurology follow-up revealed restricted abduction bilaterally, finger-to-nose dysmetria, dysarthria, wide based gait, and normal mentation. Review of initial MRI was unusual for infarct given involvement of three vascular territories and was thought to be characteristic for metabolic or infectious processes including sCJD. Additional workup was notable for positive 14-3-3 and Real-time quaking-induced conversion in cerebrospinal fluid analysis. Repeat MRI showed bilateral basal ganglia and frontal cortex hyperintensities. Patient was diagnosed with probable sCJD by CDC criteria. He was eventually transitioned to palliative care and died 5 months later. Autopsy analysis showed protease-resistant prion protein confirming the diagnosis of sCJD.

This case illustrates an unique early presentation of sCJD with cranial nerve palsies and acute symptom onset, mimicking stroke, leading to misdiagnosis. Although the patient did not have rapidly progressive dementia, his worsening focal neurological deficits in setting of atypical vascular territory involvement on MRI should raise suspicion for alternative diagnosis. Characteristic MRI finding in the caudate and putamen is over 90% sensitive and specific for CJD. Broadening the differential for CN palsies and familiarity with imaging findings may be important to prevent future misdiagnosis.