Creutzfeldt-Jakob Disease May Present Early With Unusual Bulbar Predominance

Creutzfeldt-Jakob disease (CJD) is a prion protein disorder of significant consequence and currently incurable. Diagnosis can be challenging early in the disease course. CJD can present in many ways but often fits a pattern of cognitive problems, cerebellar disturbance, behavioral/psychological changes, and perhaps myoclonus.

We herein present the case of a 69-year-old White male with subacute progressive bulbar and limb weakness over ten weeks period. Early on, he was diagnosed with amyotrophic lateral sclerosis versus autoimmune-related bulbar neuropathy and treated as such. However, he continued to deteriorate clinically that prompted another admission, upon readmission, his cerebrospinal fluid RTQuick and 14-3-3 from the National Prion Disease Pathology Surveillance Center (NPDPSC) did eventually return positive. Hence he was diagnosed with CJD.

CJD may present with progressive bulbar symptoms similar to acute inflammatory demyelinating polyradiculoneuropathy (MF variant), motor neuron disease, or autoimmune brainstem encephalitis. It becomes even higher on the differentials especially with no response to immunotherapy.