Sporadic Creutzfeldt-Jakob Disease: A Rare Case of Rapid Progressive Cognitive Decline with Special Reference to Magnetic Resonance Spectroscopy.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare degenerative disorder seen in the 6-8th decade of life. It manifests as a rapidly progressing cognitive deterioration, the etiopathogenesis of which is neuronal accumulation of aberrant prion protein [scrapie-associated prion protein (PrPSC)], resulting in mortality within 1 year of diagnosis. Clinical features such as dementia, myoclonus, cerebellar, and extrapyramidal symptoms are observed in CJD, which may be confused with other degenerative conditions and many infectious diseases like human immunodeficiency virus (HIV), creating a diagnostic challenge. Consequently, a multimodal approach with clinical, electrophysiological, radiological, and biochemical analyses is needed to validate the diagnosis of CJD. There is no effective treatment available for CJD. Early identification of the disease can lead to palliative care. Mortality of the patient occurs due to infection and comorbidities. In this article, we report a case of a 60-year-old male with probable sporadic CJD who presented with dementia, akinetic mutism, and rigidity, along with typical magnetic resonance imaging (MRI) findings of the brain. The magnetic resonance spectroscopy (MRS) study showed lower N-acetylaspartate/creatine (NAA: Cr) and Cho: Cr ratios correlated with progressive neurodegeneration and, hence, poor prognosis.