Abstract
BackgroundSporadic Creutzfeldt–Jakob disease, with a mean survival of 6 months, is duly considered among the most fatal neurological disorders. Rapidly progressive dementia with multi-axial involvement of the nervous system is the known presentation. Although, the peak age at onset is between sixth and eighth decades, cases of young-onset sporadic Creutzfeldt–Jakob disease have also been reported in the literature. Interestingly, these young-onset cases were reported to have some features distinct from their older age group counterparts, such as slower progression as well as longer duration of illness, dominance of psychiatric manifestations at the onset, and relatively less prevalence of radiological and electroencephalographic abnormalities.Case presentationWe describe here the case of a 42-year-old Asian woman from India who presented with cerebellar ataxia, pyramidal and extrapyramidal involvement, followed by rapidly progressive dementia along with myoclonus, all within a span of 1 month. Probable infective, metabolic, autoimmune, and paraneoplastic etiologies were ruled out. Magnetic resonance imaging of her brain revealed bilateral caudate nucleus hyperintensity in T2/fluid-attenuated inversion recovery sequence. Diffusion-weighted imaging revealed bilateral caudate and putaminal diffusion restriction plus ribbon pattern in bilateral parieto-occipital and insular cortex. Serial electroencephalography revealed diffuse slowing of background activity along with triphasic waves in short periodic interval. Cerebrospinal fluid was tested positive for 14-3-3 protein. Based on these findings, a diagnosis of sporadic Creutzfeldt–Jakob disease was made.ConclusionOur patient represents an atypical clinical situation as she is much younger than the usual presentation of Creutzfeldt–Jakob disease and it progressed far too rapidly. Cognitive decline came late in the temporal sequence of clinical events; rather, the onset was dominated by features consistent with cerebellar ataxia and basal ganglia involvement. The presence of magnetic resonance imaging abnormality and electroencephalography changes are other rare findings in young-onset sporadic Creutzfeldt–Jakob disease.
Highlights
Sporadic Creutzfeldt–Jakob disease, with a mean survival of 6 months, is duly considered among the most fatal neurological disorders
Prion diseases are a group of neurodegenerative diseases caused by the conversion of the normal form of prion protein (PrPC, prion-related protein, in which C stands for the cellular form of the protein) with a primarily alpha-helical structure into an abnormal form of the prion protein (PrPSc, proteinaceous infectious particle, in which Sc stands for scrapie, the prion disease of sheep and goats), which has a primarily beta-pleated sheet structure
We present here a case of young-onset sporadic Creutzfeldt– Jakob disease (CJD) with some unusual clinical features like too rapid deterioration, relatively late appearance of dementia, and dominance of cerebellar ataxia with extrapyramidal feature at the onset of illness
Summary
Sporadic CJD in young individuals is a rare occurrence. The described phenotypes of young-onset cases clearly suggest that they are distinct from older-onset CJD from the perspective of brain imaging and EEG, regardless of their apparent similarities in clinical features. The case reported here contradicts this notion and possibly represents a different subset of young-onset sporadic CJD. Noteworthy observations in the present case were cerebellar ataxia as the initial symptom, relatively delayed onset of dementia, quick deterioration with a very brief duration of illness, typical MRI findings of sporadic CJD, and highly suggestive sequential EEG changes. Our case adds to the tally of cases of young-onset sporadic CJD, and points to an expanding spectrum of the disease itself
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