Bilateral hearing loss heralding sporadic Creutzfeldt-Jakob disease: a case report and literature review.

OBJECTIVE: To report a case of sporadic Creutzfeldt-Jakob disease (CJD) with bilateral hearing loss at onset and literature review of the scarce cases of CJD with similar audiologic manifestations at presentation.

CASE REPORT: A 67-yr-old man presented to the hospital for evaluation of rapid progression of behavioral decline, unsteady gait, and bilateral hearing loss. Three months before admission, he abruptly developed bilateral hypoacusis without associated tinnitus or vertigo. Shortly after, his family noted an ataxic gait and behavioral changes, for example, paranoid delusions. Initial workup, including a complete autoimmune panel and heavy metals, infectious, toxicology, and paraneoplastic panel (e.g., anti-Hu, anti-VGKC), was conducted. Electroencephalography revealed diffuse generalized slowing without periodic complexes. The presence of distortion product otoacoustic emissions bilaterally was consistent with normal cochlear function, suggesting a retrocochlear origin for symptoms of hearing loss. In the meantime, the patient developed startle myoclonus. The brain magnetic resonance imaging demonstrated asymmetric cortical ribbon along with T2 FLAIR signal hyperintensities of bilateral basal ganglia. Later on, the protein 14-3-3 in the cerebrospinal fluid came back positive, which supported the diagnosis of CJD. Only three cases of CJD with deafness at onset have been published: one sporadic, associated with symptoms suggestive of polyneuropathy; and the other two familial, with the E200K mutation. One presented with symptoms of polyneuropathy and the other with typical features.

CONCLUSION: This case illustrates the phenotypic variability of presentation of CJD in a patient with hearing loss as the initial manifestation. In patients with subacute bilateral hypoacusis and signs of dementia, the differential diagnosis of CJD must be taken into consideration.