Ismail Shafaq, Shafei Mohamed, Rehan Jahanzeb
Acute Medicine, Sherwood Forest Hospitals NHS Foundation Trust, King's Mill Hospital, Mansfield, GBR.
Respiratory Medicine, Sherwood Forest Hospitals NHS Foundation Trust, King's Mill Hospital, Mansfield, GBR.
Cureus. 2025 May 16;17(5):e84233. doi: 10.7759/cureus.84233. eCollection 2025 May.
Creutzfeldt-Jakob disease (CJD) is a rare, fatal neurodegenerative prion disorder that often mimics other neurological conditions, including stroke. This case report highlights the diagnostic challenges in a patient with CJD initially presenting with nonspecific neurological symptoms. A 70-year-old male with a history of bladder cancer, hypertension, osteoarthritis, and migraines presented with acute confusion, fever, and nonspecific symptoms. Initial evaluation revealed altered mental status, elevated inflammatory markers, and chest consolidation on computed tomography (CT) imaging. Despite negative blood cultures and cerebrospinal fluid (CSF) analysis, the patient's condition deteriorated rapidly. The patient exhibited acute confusion worsening over two days, bilious vomiting, fever (39.1°C), generalized abdominal pain, persistent nausea, and decreased eating, drinking, and mobility. Initial differentials included posterior-circulation stroke, hospital-acquired pneumonia, and urinary tract infection. Blood and urine cultures, CT of the head, and CT pulmonary angiography were inconclusive. Magnetic resonance imaging (MRI) of the head revealed bilateral temporo-parietal cortical restricted diffusion, prompting neurological evaluation. The final diagnosis was confirmed by a positive real-time quaking-induced conversion (RT-QuIC) polymerase chain reaction (PCR) test for CJD. Key diagnostic findings included clear colorless CSF with positive RT-QuIC PCR, elevated C-reactive protein (281 mg/L) and white cell count (15.2 x 10ˆ9/L) with neutrophilia (14.1 x10ˆ9/L), and MRI showing bilateral temporo-parietal cortical restricted diffusion. This case underscores the importance of considering CJD in patients presenting with atypical neurological symptoms, even when initial presentations suggest more common conditions like stroke. Early recognition, appropriate neuroimaging, and specialized tests like RT-QuIC are crucial for the timely diagnosis and management of this rare but devastating illness.
克雅氏病（CJD）是一种罕见的致命性神经退行性朊病毒病，常与包括中风在内的其他神经系统疾病相似。本病例报告强调了一名最初表现为非特异性神经症状的克雅氏病患者的诊断挑战。一名70岁男性，有膀胱癌、高血压、骨关节炎和偏头痛病史，出现急性意识模糊、发热和非特异性症状。初步评估显示精神状态改变、炎症标志物升高以及计算机断层扫描（CT）成像显示肺部实变。尽管血培养和脑脊液（CSF）分析结果为阴性，但患者病情迅速恶化。患者在两天内急性意识模糊加重，出现胆汁性呕吐、发热（39.1°C）、全腹疼痛、持续性恶心以及进食、饮水和活动能力下降。初步鉴别诊断包括后循环中风、医院获得性肺炎和尿路感染。血培养和尿培养、头部CT以及CT肺动脉造影均无定论。头部磁共振成像（MRI）显示双侧颞顶叶皮质扩散受限，促使进行神经学评估。最终诊断通过克雅氏病的实时震颤诱导转化（RT-QuIC）聚合酶链反应（PCR）检测呈阳性得以证实。关键诊断结果包括脑脊液清澈无色，RT-QuIC PCR呈阳性，C反应蛋白升高（281mg/L），白细胞计数升高（15.2×10⁹/L）且中性粒细胞增多（14.1×10⁹/L），MRI显示双侧颞顶叶皮质扩散受限。本病例强调了对于出现非典型神经症状的患者，即使初始表现提示更常见的疾病如中风，也应考虑克雅氏病的重要性。早期识别、适当的神经影像学检查以及如RT-QuIC等专门检测对于及时诊断和管理这种罕见但具有毁灭性的疾病至关重要。
