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南德克萨斯州的克雅氏病:3例西班牙裔患者的病例系列

Creutzfeldt-Jakob Disease in South Texas: A Case Series of Three Hispanic Patients.

作者信息

Salinas Daniela I, Cruz Roberto A, Rincon Rueda Silvia, Estofan Leonel J

机构信息

Neurology Institute, Doctors Hospital at Renaissance, McAllen, USA.

Neurology, Tecnologico de Monterrey, Monterrey, MEX.

出版信息

Cureus. 2025 Jun 10;17(6):e85699. doi: 10.7759/cureus.85699. eCollection 2025 Jun.

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder instigated by the pleating of prion proteins. Most cases are sporadic, with no identifiable genetic or environmental trigger. This retrospective case series aims to bridge the current knowledge gap in regard to CJD in Hispanic populations. We hope to review the management and outcomes of three Hispanic patients diagnosed with sporadic CJD at a community hospital in South Texas between 2021 and 2024. Clinical data, imaging studies, and cerebrospinal fluid (CSF) results were reviewed for three unrelated patients aged over 55 who met the Centers for Disease Control and Prevention (CDC) criteria for probable CJD. All patients presented with progressive cognitive decline, cerebellar signs, and myoclonus. Magnetic resonance imaging (MRI) showed cortical ribboning; CSF was positive for the 14-3-3 protein and/or real-time quaking-induced conversion (RT-QuIC). All patients died within two years of symptom onset. These cases highlight the need for specialized medical personnel for the early recognition of CJD symptoms in underrepresented populations. Improved awareness and diagnostic readiness can enhance care planning and avoid unnecessary delays from symptom onset to diagnosis and care.

摘要

克雅氏病(CJD)是一种罕见的、快速进展的神经退行性疾病,由朊病毒蛋白的折叠引发。大多数病例是散发性的,没有可识别的遗传或环境触发因素。本回顾性病例系列旨在填补目前西班牙裔人群中克雅氏病方面的知识空白。我们希望回顾2021年至2024年期间在南德克萨斯州一家社区医院被诊断为散发性克雅氏病的三名西班牙裔患者的治疗情况和结果。对三名年龄超过55岁、符合疾病控制与预防中心(CDC)可能的克雅氏病标准的无关患者的临床数据、影像学研究和脑脊液(CSF)结果进行了回顾。所有患者均出现进行性认知衰退、小脑体征和肌阵挛。磁共振成像(MRI)显示皮质带状征;脑脊液14-3-3蛋白和/或实时震颤诱导转化(RT-QuIC)检测呈阳性。所有患者在症状出现后两年内死亡。这些病例凸显了需要专业医务人员在代表性不足的人群中早期识别克雅氏病症状。提高认识和诊断准备程度可以加强护理规划,避免从症状出现到诊断和护理的不必要延误。

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