Sporadic Creutzfeldt-Jakob Disease With Status Epilepticus: Molecular Mechanisms and a Scoping Review of the Literature

Creutzfeldt-Jakob disease (CJD) is a rapidly progressing neurodegenerative disorder and is a spongiform encephalopathy. A 59-year-old male presented with subacute-onset worsening encephalopathy and was found to be in non-convulsive status epilepticus (NCSE) requiring intubation and a midazolam infusion for refractory seizures. Electroencephalogram (EEG) revealed triphasic repeats with focal epileptogenic originating from the left parietal region. The patient continued to have up to 25-40 non-convulsive seizures per day. Cerebrospinal fluid (CSF) analysis revealed elevated 14-3-3 and tau protein. A real-time quaking-induced conversion assay in CSF was positive. The patient was diagnosed with probable sporadic CJD based on criteria from the Centers for Disease Control. Supportive treatment was provided. Cellular prion protein (PrP(C)) plays an important role in myelination of the peripheral nervous system, regulation of the neuronal membrane, and circadian rhythm. The molecular mechanisms of CJD involve the catalyzation of the physiological PrP(C )into the pathological prion protein (PrP(Sc)). This post-translational change in conformation leads to the generation of PrP(Sc )and is involved in spongiform encephalopathies. Mechanisms of neurodegeneration include astrocytosis, neuronal apoptosis, and amyloid plaque formation. A scoping literature review was conducted in three databases on cases of CJD with SE. A total of 13 cases are identified that include the type of CJD and the morphology of the seizures. NCSE is the most prevalent form of SE in patients with CJD.