<p>Creutzfeldt–Jakob disease is a&#xa0;rare, rapidly progressing prion disease. We report the case of a&#xa0;man with atypical neurological clinical presentation. He presented with problems of swallowing and speaking, weight loss, and extrapyramidal symptoms. Other neurodegenerative diseases, such as motor neuron disease or Parkinson’s syndrome were considered; we also excluded different causes of encephalitis. Additional diagnostics with cerebral MRI, EEG, and lumbar puncture confirmed the suspected diagnosis of Creutzfeldt-–Jakob disease. The final detection of pathological prion proteins was conducted with RT-QuIC assay. The neuropathological autopsy verified the final diagnosis of a&#xa0;spongiform encephalopathy, i.e., Creutzfeldt–Jakob disease.</p>

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Creutzfeldt-Jakob-Erkrankung mit atypischer Präsentation

  • Ines Spazierer

摘要

Creutzfeldt–Jakob disease is a rare, rapidly progressing prion disease. We report the case of a man with atypical neurological clinical presentation. He presented with problems of swallowing and speaking, weight loss, and extrapyramidal symptoms. Other neurodegenerative diseases, such as motor neuron disease or Parkinson’s syndrome were considered; we also excluded different causes of encephalitis. Additional diagnostics with cerebral MRI, EEG, and lumbar puncture confirmed the suspected diagnosis of Creutzfeldt-–Jakob disease. The final detection of pathological prion proteins was conducted with RT-QuIC assay. The neuropathological autopsy verified the final diagnosis of a spongiform encephalopathy, i.e., Creutzfeldt–Jakob disease.