Title : Rapidly progressive dementia: A case of sporadic creutzfeldt-jakob disease
Abstract:
Introduction:
Creutzfeldt-Jakob Disease (CJD) is a rare and rapidly progressive neurodegenerative disorder with diverse clinical presentations. Timely diagnosis of CJD remains a challenge due to its nonspecific symptoms and lack of widely available definitive tests. This abstract delves into a case study that highlights the diagnostic complexities and the critical role of clinical acumen in the identification of CJD.
Case Study:
We present the case of a previously healthy 57-year-old man who initially presented with slurred speech, vertigo, ataxia, and memory loss over two weeks, following a sudden severe headache. Initial assessments, including CT Head and routine blood tests, were unremarkable. An urgent MRI head scan indicated cortical diffusion restriction in the left frontal lobe, raising suspicion of Sporadic Creutzfeldt-Jakob disease (sCJD).
Upon admission, neurological findings included nystagmus, severe gait ataxia, and bilateral dysmetria. Additional tests, including blood and cerebrospinal fluid analysis, and EEG, were normal except for left hemispheric dysfunction on EEG. Over six weeks, as his condition progressed, he experienced reduced visual acuity, leading to an MRI orbit revealing worsening cortical diffusion restriction. Symptoms worsened, including seizures, hallucinations, aggression, and involuntary movements. Diagnostic considerations included paraneoplastic syndrome, subacute cerebellar syndrome, and CJD. His condition rapidly deteriorated, displaying predominantly pyramidal signs, cerebellar syndrome, myoclonus, alien limb syndrome, dysarthria, and relatively preserved cognition. Extensive investigations ruled out alternative causes. A diagnosis of probable sCJD was made based on CDC diagnostic criteria. The patient's condition rapidly deteriorated with worsening CNS dysfunction and he was eventually transferred to hospice care.
Results:
Extensive diagnostic workup included neuroimaging with MRI, EEG, CSF analysis, and serological tests, all of which were crucial in narrowing down the diagnosis. The patient exhibited classic CJD features such as periodic sharp wave complexes on EEG, cortical diffusion restriction on MRI, and elevated 14-3-3 protein in CSF. Additionally, this case emphasizes the importance of considering CJD in atypical presentations and highlights the evolving role of diagnostic tools like RT-QuIC.
Conclusion:
Creutzfeldt-Jakob Disease remains a rare and enigmatic neurological disorder with a poor prognosis and rapid progression. This case study reinforces the critical role of a multidisciplinary approach in diagnosing CJD, particularly in atypical presentations. It also highlights the evolving diagnostic landscape, emphasizing the importance of early recognition and appropriate management to enhance patient comfort and quality of life throughout the disease course.
Audience Take Away
- The diverse clinical presentations of CJD, emphasizing the need for a high index of suspicion
- The utility of advanced neuroimaging, EEG, and CSF analysis in CJD diagnosis
- The emerging role of RT-QuIC as a less invasive and highly specific diagnostic tool
- The importance of early recognition and appropriate management of CJD, despite its rarity
- The critical role of palliative care in ensuring patient comfort and quality of life as the disease progresses
