Alotaibi Fatima Ghazi, Bahammam Rakan, Alqarni Khalid M, Aldraihem Othman O
Department of Neurology, King Saud University Medical City, Riyadh, Saudi Arabia.
College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Am J Case Rep. 2025 Sep 22;26:e949905. doi: 10.12659/AJCR.949905.
BACKGROUND Creutzfeldt-Jakob disease (CJD) is a rare and fatal neurodegenerative condition caused by misfolded prion proteins. It most commonly presents with rapidly progressive dementia and neurological deterioration. While psychiatric symptoms are not unusual in the early stages of CJD, it is very uncommon for the disease to begin with manic features as the primary presentation. CASE REPORT We describe the case of a 65-year-old woman who initially developed symptoms consistent with mania. These included an elevated mood, emotional instability, and insomnia. Over time, her clinical condition worsened, and she began to experience hallucinations, along with a noticeable motor decline. Due to the atypical nature of her initial symptoms, she was first treated for viral encephalitis, which contributed to a delay in establishing the correct diagnosis. Subsequent investigations played a key role in clarifying the underlying pathology. Brain magnetic resonance imaging (MRI) revealed characteristic findings of CJD, including cortical ribboning and changes in the basal ganglia. Electroencephalography (EEG) showed periodic sharp-wave complexes, further supporting the diagnosis. Cerebrospinal fluid analysis tested positive for prion protein using real-time quaking-induced conversion (RT-QuIC), confirming a final diagnosis of sporadic CJD (sCJD). CONCLUSIONS Although rare, mania can be an early sign of CJD. This case illustrates the diagnostic challenges that arise when psychiatric symptoms dominate the initial clinical picture. It emphasizes the importance of maintaining a broad differential diagnosis when evaluating new-onset psychiatric symptoms in older adults, especially when these symptoms are accompanied by a rapid decline in cognition or motor function. Early consideration of CJD in such scenarios may help expedite diagnosis, avoid unnecessary treatments, and provide clarity for patients and families facing a progressive and life-limiting illness.
克雅氏病（CJD）是一种由错误折叠的朊病毒蛋白引起的罕见致命性神经退行性疾病。其最常见的表现为快速进展性痴呆和神经功能恶化。虽然精神症状在CJD早期并不罕见，但以躁狂特征作为主要表现开始发病的情况非常少见。
我们描述了一名65岁女性的病例，她最初出现了与躁狂相符的症状，包括情绪高涨、情绪不稳定和失眠。随着时间的推移，她的临床状况恶化，开始出现幻觉，同时伴有明显的运动功能下降。由于其初始症状的非典型性质，她最初被诊断为病毒性脑炎并接受治疗，这导致了正确诊断的延迟。后续检查在明确潜在病理方面发挥了关键作用。脑磁共振成像（MRI）显示了CJD的特征性表现，包括皮质带征和基底节改变。脑电图（EEG）显示周期性锐波复合波，进一步支持诊断。脑脊液分析通过实时震颤诱导转化（RT-QuIC）检测朊病毒蛋白呈阳性，最终确诊为散发性克雅氏病（sCJD）。
虽然罕见，但躁狂可能是CJD的早期迹象。该病例说明了当精神症状主导初始临床表现时所面临的诊断挑战。它强调了在评估老年人新发精神症状时保持广泛鉴别诊断的重要性，尤其是当这些症状伴有认知或运动功能快速下降时。在这种情况下早期考虑CJD可能有助于加快诊断，避免不必要的治疗，并为面临进行性和危及生命疾病的患者及其家属提供明确的诊断。
