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. Patient presents with a variety of non-specific neuropsychiatric symptoms, like myoclonus, cerebellar symptoms, visual impairment, and behavioural 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 years old male presented with multiple neuropsychiatric symptoms. After a series of extensive diagnostic examinations and follow-up, the patient was diagnosed as probable sporadic Creutzfeldt-Jakob disease based on 2018 Centres for Disease Control and Prevention (CDC) criteria, with key findings of myoclonus, behavioural and cerebellar problems, visual abnormalities, abnormal hyperintensity signals on diffusion-weighted MRI and characteristic EEG waves. CSF 14-3-3 protein was significantly high. Conclusion: Sporadic CJD is a rare and fatal rapidly progressive neurodegenerative disorder, which claims prompt and precise diagnosis to help the clinicians in distinguishing 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 family to prepare for disease course and appropriate management strategies.