Department of Neurology, University of Minnesota, Minneapolis, MN.
Neurologist. 2021 Mar 4;26(2):69-72. doi: 10.1097/NRL.0000000000000321.
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.
克雅氏病（CJD）是一种由朊蛋白引起的严重疾病，目前尚无治愈方法。在疾病早期，诊断可能具有挑战性。CJD 可以以多种方式出现，但通常符合认知问题、小脑紊乱、行为/心理变化，以及可能的肌阵挛的模式。
我们在此介绍了一位 69 岁的白人男性的病例，他在十周的时间内出现亚急性进行性球部和四肢无力。早期，他被诊断为肌萎缩侧索硬化症，而不是自身免疫相关的球部神经病，并按此进行治疗。然而，他的临床状况继续恶化，促使他再次入院。再次入院时，他的脑脊液 RTQuick 和来自国家朊病毒疾病病理学监测中心（NPDPSC）的 14-3-3 最终呈阳性。因此，他被诊断为 CJD。
CJD 可能以类似于急性炎症性脱髓鞘性多发性神经病（MF 变体）、运动神经元病或自身免疫性脑脑干脑炎的进行性球部症状出现。在没有免疫治疗反应的情况下，鉴别诊断的可能性更高。
