An Atypical Presentation of Creutzfeldt-Jakob Disease With a Heidenhain Variant and Balint's Syndrome

伴有海登海因变异型和巴林特综合征的非典型克雅氏病

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Abstract

Creutzfeldt-Jakob disease (CJD) is known for a rapidly progressive decline in cognitive functions due to an underlying infection from a prion. This case involves a unique and atypical variant of CJD that was difficult to diagnose for the investigating medical teams. As such, it highlights the particular challenge of using traditional diagnostic algorithms for atypical variants of CJD, in terms of time-appropriate diagnostics. The patient presented with a sudden episode of vertigo which was treated as an isolated symptom. While succeeding investigations involving neurology and otolaryngology specialists were being carried out, the patient experienced progressively worsening and more frequent episodes of disequilibrium that required multiple visits to emergency care facilities. In such a facility, a repetitive battery of serum and cerebrospinal fluid testing confirmed the diagnosis of CJD. Subsequently, the patient was provided the necessary supportive care. While this case was successfully diagnosed, it showed that common presentations can have significant underlying neurological implications, and such atypical variants should be accounted for in traditional diagnostic algorithms. This can avoid unnecessary delays in therapeutic rehabilitation.

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