Report of a Case of Creutzfeldt-Jakob Disease With an Unusual Clinical Presentation

Abstract

We describe the clinical features, neuropsychological tests, laboratory, electroencephalography (EEG), magnetic resonance imaging (MRI) and positron emission tomography (PET) findings of a 59-year-old woman who presented to our Centre for cognitive impairment since few months, with language disturbances, particularly anomia, dyscalculia, and memory loss. The clinical and neuropsychological features were non-specific and overlapping with those of other rapidly progressing neurodegenerative disorders. However, brain MRI played a pivotal role in the diagnosis, showing cortical diffusion restriction, particularly in the parietal lobes and posterior cingulum, with sparing of the perirolandic cortex, typical of Creutzfeldt-Jakob disease (CJD). Brain MRI abnormalities were visible since the first evaluation and remained stable at 2 and 6 weeks follow up. Basal ganglia and thalami were never involved. PET showed left lateralized reduced glucose metabolism, with partial overlap with MRI signal abnormalities. Despite MRI were strongly indicative of CJD, clinical, laboratory and EEG findings did not fulfill the diagnostic criteria for CJD which applied at the time of clinical assessment. Indeed, neither myoclonus, visual or cerebellar signs or akinetic mutism were present. Also, the characteristic periodic sharp wave complexes were absent at baseline EEG, and the CSF assay for 14-3-3 was negative. We, therefore, performed a real-time quaking-induced conversion (RT-QuIC) assay on a frozen sample of corticospinal fluid (CSF), which showed a positive result. RT-QuIC is a prion protein conversion assay that has shown high diagnostic sensitivity and specificity for the diagnosis of CJD. RT-QuIC has been recently incorporated in the National CJD Research and Surveillance Unit and Center for Disease Control and Prevention (CDC) diagnostic criteria for CJD. The fatal evolution of the disease brought the patient to death 13 months after symptoms onset. Pathology proved the diagnosis of sporadic CJD, subtype MM/MV 2C.

Bilateral hearing loss as an initial presentation of Creutzfeldt-Jakob disease

“…Two cases, including ours, had vestibulocochlear pattern involvement, another case was normal, and in the remaining cases, it was not possible to carry out the test or if the result was inconclusive. [1][2][3][4][5][6] Other causes of hearing loss associated with progressive encephalopathy should be taken under consideration, such as Whipple's disease, Lyme disease, human immunodeficiency virus, Susac disease, sarcoidosis, central nervous system vasculitis, lymphoma, and paraneoplastic disease. 4 Prion disease should be considered in cases of rapidly progressive dementia with myoclonus; however, in one-third of the cases, it may initially manifest with atypical symptoms such as aphasia, pure ataxia, and visual or hearing loss.…”

“…[1][2][3][4][5][6] Other causes of hearing loss associated with progressive encephalopathy should be taken under consideration, such as Whipple's disease, Lyme disease, human immunodeficiency virus, Susac disease, sarcoidosis, central nervous system vasculitis, lymphoma, and paraneoplastic disease. 4 Prion disease should be considered in cases of rapidly progressive dementia with myoclonus; however, in one-third of the cases, it may initially manifest with atypical symptoms such as aphasia, pure ataxia, and visual or hearing loss. In atypical cases, the recognition of typical patterns for CJD on the brain is MRI and is of great importance to guide for further investigation.…”

“…Two cases, including ours, had vestibulocochlear pattern involvement, another case was normal, and in the remaining cases, it was not possible to carry out the test or if the result was inconclusive. 1 , 2 , 3 , 4 , 5 , 6 …”

“…Other causes of hearing loss associated with progressive encephalopathy should be taken under consideration, such as Whipple’s disease, Lyme disease, human immunodeficiency virus, Susac disease, sarcoidosis, central nervous system vasculitis, lymphoma, and paraneoplastic disease. 4 …”