Sporadic Creutzfeldt-Jakob Disease with Autoimmune Encephalitis Antibody Positivity

Abstract

A wide spectrum of inflammatory and degenerative diseases including autoimmune encephalitis or paraneoplastic encephalitis (PNE) and sporadic Creutzfeldt-Jakob disease (sCJD) can be related to rapidly progressive cognitive decline. This report describes a patient with rapidly progressive dementia, myoclonus, and cerebellar findings with anti-Ma2/Ta antibody positivity who was diagnosed as probable sCJD. A 63-year-old female patient presented with progressive cognitive impairment, involuntary movements, and impaired walking and speech. Her symptoms worsened within weeks. An electrocardiogram revealed irregular, moderate, and high amplitude slow wave activity in both hemispheres with marked sharp wave discharges in the frontotemporal regions. Cranial diffusion-weighted magnetic resonance imaging was performed and revealed bilateral hyperintensity on the nucleus caudatus and globus pallidus with frontal cortical ribboning. Testing yielded a negative result for the 14-3-3 protein in cerebrospinal fluid and a positive result for the anti-Ma2/Ta antibody. Intravenous immunoglobulin therapy was provided; however, the patient deteriorated and died. sCJD is a rare neurodegenerative disease with an unknown etiology. It is a fatal disease with no known effective treatment. Clinical signs are cerebellar dysfunction, epileptic disturbances, visual signs, and pyramidal/extrapyramidal findings. These symptoms may be non-specific and diagnosis can be challenging for clinicians. Autoimmune encephalitis, PNE, and sCJD may mimic each other and must be considered during the diagnostic process. When clinical suspicion arises, treatable etiologies of rapid cognitive decline should not be ignored and must be addressed to avoid a poor outcome.

Keywords

• auto-immune encephalitis
• anti-ma2/ta antibody
• creutzfeldt-jakob disease.