[A case of Creutzfeldt-Jakob disease with E200K mutation presenting with hearing loss and central hypoventilation]

We report the case of a 43-year-old female patient who presented with symptoms of abnormal behavior, hearing loss, ataxic gait, central hyperventilation which had appeared over the course of one month. Brain MRI showed no abnormal findings in DWI and EEG did not indicate periodic synchronous discharge (PSD). Over the course of the same month, she also presented with central apnea that intermittently showed spontaneous improvement and reappearance. Cerebrospinal fluid 14-3-3 protein tested negative and there was no family history, but an abnormal prion protein was detected in the cerebrospinal fluid by the RT-QUIC assay. We diagnosed her with familial Creutzfeldt-Jakob disease (CJD) with an E200K mutation after genetic examination. Both high cortical signals on MRI and PSD on EEG were not recognized even in the advanced stage. Central apnea was presumed to be caused by disorders of the respiratory center of the brainstem. Hearing loss was also considered to be an obstacle at the brainstem level from the latency delay after the III wave in auditory brainstem response (ABR). The possibility of brain stem symptoms occurring in the early stages of CJD should be considered.