Tonsillar Biopsy as Diagnostic Choice in Variant Creutzfeldt-Jakob Disease

Objectives: We attempt to publish the first U.S. report of proceeding with biopsy of tonsillar tissue to diagnose vCJD and review the literature. Methods: We review an interesting case of a patient who underwent tonsillectomy to potentially diagnose a variant of Creutzfeldt-Jakob disease (vCJD) in November of 2012. Variant Creutzfeldt-Jakob disease (vCJD) has impacted the British medical community for some time now. In the appropriate clinical context, a tonsil biopsy sample that is positive for PrPSc, variant CJD could be diagnosed, which obviates the need for a brain biopsy sample to be taken. Results: From other studies conducted in the British literature, tonsillar biopsy has been advocated for the diagnosis of a variant of Creutzfeldt-Jakob disease preventing unnecessary morbidity from brain biopsy. The patient we reviewed was a young male who presented to the Emergency Room with a weeklong history of worsening headache. Magnetic resonance imaging (MRI) of the brain revealed signs consistent with encephalitis while electroencephalogram ruled out seizure activity and spinal fluid specimen was negative for meningitis. Infectious disease was consulted and recommended tonsillar biopsy to rule out variant Creutzfeldt-Jakob disease. We review the literature on the utility of tonsillar biopsy for diagnosis of Creutzfeldt-Jakob disease and report the first published report of this diagnostic modality in the United States. Conclusions: Tonsillar biopsy can safely be used in the diagnosis of variant Creutzfeldt-Jakob disease obviating the need for more invasive procedures and at this time while disposal of instrumentation used for the tonsillectomy is the current recommended practice.