A case report on Creutzfeldt-Jacob disease: early diagnosis through multidisciplinary lens

Abstract

Background: Creutzfeldt Jacob disease is a rapidly progressive neurodegenerative disorder, which is invariably fatal and results in death within 1 year of onset. The patient presents with a variety of non-specific neuropsychiatric symptoms, such as myoclonus, cerebellar symptoms, visual impairment, and behavioral abnormalities. The symptoms are rapidly progressive and cause early functional impairment in the patient. Case Presentation: In this report, we discussed a case of 49-year-old male presented with multiple neuropsychiatric symptoms. After a series of extensive diagnostic examinations and follow-up, the patient was diagnosed as having probable sporadic Creutzfeldt-Jakob disease based on 2018 Centres for Disease Control and Prevention criteria, with key findings of myoclonus, behavioral and cerebellar problems, visual abnormalities, abnormal hyperintensity signals on diffusion-weighted magnetic resonance imaging and characteristic electroencephalogram waves. CSF 14-3-3 protein was significantly high. Conclusion: Sporadic CJD is a rare and fatal rapidly progressive neurodegenerative disorder, that claims prompt and precise diagnosis to help clinicians distinguish it from potentially treatable neuropsychiatric disorders. This aspect elevates the significance of our report, as it aids not only the medical professionals but also the affected families. Early diagnosis enables the family to prepare for the disease course and appropriate management strategies.