A case report of sporadic Creutzfeldt-Jakob disease presenting with progressive opsoclonus-myoclonus-ataxia-Plus (OMAS-Plus) phenotype.
Richard Hulej, Pavol Skáčik, Dana Žáková et al.
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Case in brief
A 63-year-old man presented with progressive dysarthria and bulbar symptoms, initially suggestive of myasthenia gravis. His condition deteriorated, leading to right-predominant hemiataxia, polymyoclonus, and cognitive decline. Despite extensive testing and treatment with corticosteroids, no improvement was noted. Ultimately, brain MRI and CSF analysis confirmed sporadic Creutzfeldt-Jakob disease (sCJD) of the MM1 subtype.
What made this case unusual
The case highlights an atypical presentation of sCJD characterized by an opsoclonus-myoclonus-ataxia-plus (OMAS-plus) phenotype, which can mislead diagnosis towards treatable conditions.
Diagnostic / clinical pearl
Clinicians should consider prion disease in cases of rapidly progressive neurological symptoms, even when initial presentations suggest treatable disorders.
Why it matters
Recognizing atypical presentations of sCJD can prevent misdiagnosis and ensure timely consideration of prion disease in similar cases.