Coexistent Vestibular Schwannoma and Creutzfeldt-Jakob Disease: Recognition and Infection Control

We describe the first known case of coexistent vestibular schwannoma (VS) and Creutzfeldt-Jakob disease (CJD). Our objectives are to use this case as a general lesson for the subspecialist otolaryngologist to remain vigilant to alternative diagnoses, and to specifically improve understanding of the diagnosis and management of CJD as relevant to the practice of otolaryngology and skull base surgery.

Retrospective case review performed in June 2016 at an academic, tertiary, referral center.

A 55-year-old man presents with one month of worsening disequilibrium and short-term memory loss. Magnetic resonance imaging (MRI) (T1, T2) identified a 4 mm left VS which was then surgically resected. Postoperatively, his neurological status decline continued, and subsequent MRI identified patterns of FLAIR hyperintensity and diffusion restriction consistent with CJD. While CSF analysis (tau and 14-3-3) and EEG was inconclusive, serial imaging and the clinical course were highly suggestive of CJD. A probable diagnosis was made, surgical instruments quarantined, and infection control involved to minimize transmission risk. The patient died 6 months after symptom onset.

Patients with CJD may initially present with otolaryngologic symptoms. MRI signal abnormality in the basal ganglia on diffusion weighted imaging and FLAIR sequences in conjunction with physical findings and clinical course may help make a probable diagnosis CJD. Prions are resistant to traditional sterilization and additional measures must be taken to prevent iatrogenic transmission.

Level 4-Case series.