Hyperacusis as the Initial Presentation of Creutzfeldt-Jakob Disease (P5.233)

Abstract

OBJECTIVE: We report the first case of hyperacusis as the initial presentation of sporadic Creutzfeldt-Jakob disease (CJD). BACKGROUND: Sporadic CJD is the most common form of human prion disease. Typical presenting complaints include cognitive decline, memory impairment, aphasia, diplopia, visual hallucinations, and mood changes. Perceptual disturbances including visual and auditory agnosias have been reported in the course of CJD, but are not typically the initial complaints. Few cases describe hearing loss as the initial symptom, but to our knowledge, hyperacusis has never been reported as the initial presenting complaint in CJD. DESIGN/METHODS: A 52-year-old man presented to an otolaryngologist with one month of hyperacusis and trouble discerning noises, including speech and music. He described the problem as an acoustic distortion whereby all sounds were odd and unfamiliar to him. Cerumen disimpaction failed to alleviate his symptoms and he was referred to a neurologist 4 months later with diffuse myalgias and neck pain, but had a normal neurological examination. RESULTS: Audiometry was normal but he reported discomfort in response to noises above 90dB bilaterally. A serum rheumatological panel was normal and HIV was negative. MRI revealed abnormal gyriform restricted diffusion in the bilateral parieto-occipital lobes. CSF analysis revealed WBC 0, protein 60, no oligoclonal bands. CSF was negative for lyme, HSV, 14-3-3, and total tau was within normal levels. Ten months after symptom onset, he developed hypophonia, dysarthria, diplopia, and ataxia. Two months later he could no longer work and had difficulty walking. A brain biopsy 13 months into his course revealed spongiform changes. An autopsy performed 21 months after symptom onset confirmed sporadic CJD with the MM2 genotype. CONCLUSIONS: We describe the first case of hyperacusis as the initial presenting complaint of CJD. This case highlights the wide spectrum of initial symptoms in patients with spongiform encephalopathy.

Disclosure: Dr. Merkler has nothing to disclose. Dr. Safdieh has nothing to disclose.