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

Elena Prodi,Ilaria Bertaina,Leonardo Sacco,Stefania Rossi,Emanuele Pravatà

doi:10.3389/fnbeh.2020.00055

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.

Highlights

We describe a case of rapidly progressive dementia (RPD) that started with impairment of language skills and discuss the neuropsychological differential diagnosis
This is a case of RPD induced by Creutzfeldt-Jakob disease (CJD) which exhibited unusual clinical and EEG manifestations, yet typical magnetic resonance imaging (MRI) findings, which may be relevant to physicians to consider the CJD etiology in similar clinical pictures
Paraneoplastic autoimmune encephalopathies, infections, toxic or metabolic conditions, neoplasms, and other conditions such as dural arteriovenous fistula (DAVF) that sometimes manifest as RPD (Geschwind, 2016)

Summary

INTRODUCTION

We describe a case of rapidly progressive dementia (RPD) that started with impairment of language skills and discuss the neuropsychological differential diagnosis. We report of a 59-year-old woman who developed, since December 2015, language abnormalities characterized by word retrieval difficulties and impairment in sentence production. These changes were reported to interfere with her job activity, with raising work-related stress and anxiety. The neuropsychological evaluation outlined impairment across multiple domains (Table 1) She scored 23/30 at MMSE, showing a rapid deterioration compared to the test performed 6 months before, in June. A long-term EEG monitoring, performed in February 2017, showed most evocative findings, with single triphasic waves in both waking and sleeping status compatible with mild encephalopathy and slight phasic periodism during the night. Pathology proved the diagnosis of sporadic CJD, subtype MM/MV 2C

DISCUSSION

Findings

ETHICS STATEMENT