From the National Prion Disease Pathology Surveillance Center (B.S.A., I.C., M.C.), Case Western Reserve University, Cleveland, OH; and Division of High-Consequence Pathogens and Pathology (R.M., L.B.S., T.H., E.B.), National Center for Emerging and Zoonotic Infectious Diseases, Centers for Disease Control and Prevention, Atlanta, GA.
Neurology. 2021 Oct 26;97(17):813-816. doi: 10.1212/WNL.0000000000012737. Epub 2021 Sep 8.
Sporadic Creutzfeldt-Jakob disease (sCJD) is the most common form of human prion disease and typically occurs in middle to late life. sCJD in early adulthood is extremely uncommon. The purpose of this report is to raise awareness of cases of sCJD in young patients that are not associated with a genetic mutation or acquired prion disease risk factors.
We describe the clinical presentation, diagnostic workup, and postmortem examination of a 22-year-old man with sCJD.
The patient presented with a rapidly progressive neurocognitive disorder consisting of early and prominent psychiatric symptoms. CSF real-time quaking-induced conversion (RT-QuIC) was indeterminate, and brain MRI was suggestive of prion disease. Neuropathologic examination and the absence of a genetic mutation and acquired prion disease risk factors resulted in a final diagnosis of sCJD.
Although extremely rare, sCJD can occur in young people and should be considered in the setting of rapidly progressive neuropsychiatric conditions. Postmortem examination is required to diagnose the type of prion disease and remains important to surveil for known and potentially novel acquired prion diseases.
散发性克雅氏病（sCJD）是最常见的人类朊病毒病，通常发生在中年至晚年。青年人中的 sCJD 极为罕见。本报告旨在提高对无基因突变或获得性朊病毒病危险因素的年轻患者 sCJD 病例的认识。
我们描述了一名 22 岁男性 sCJD 的临床表现、诊断检查和尸检结果。
患者表现为快速进行性神经认知障碍，早期和突出的精神病症状。脑脊液实时震颤诱导转换（RT-QuIC）结果不确定，脑 MRI 提示朊病毒病。神经病理学检查、无基因突变和获得性朊病毒病危险因素导致最终诊断为 sCJD。
尽管极为罕见，但 sCJD 可发生于青年人，在快速进展性神经精神疾病中应考虑 sCJD。尸检对于诊断朊病毒病的类型非常重要，对于已知和潜在的新型获得性朊病毒病的监测仍然很重要。
