Samra Amrit, Ahmed Tasneem, Ahmed Mariya, Elsahy Taha
Acute Medicine, Peterborough City Hospital, Peterborough, GBR.
Cureus. 2024 Nov 18;16(11):e73928. doi: 10.7759/cureus.73928. eCollection 2024 Nov.
Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disorder that leads to rapid cognitive decline, dementia, and neurological deterioration. CJD has several forms, including sporadic CJD (sCJD), which accounts for most cases, and variant CJD (vCJD), linked to exposure to bovine spongiform encephalopathy (BSE or mad cow disease). The disease is caused by abnormal prion proteins, which damage the brain and lead to death. CJD is universally fatal, with no cure, and most cases are fatal within a few months to a year after diagnosis. We present a 64-year-old woman with a four-week history of progressive yet sudden decline in cognitive function and memory loss. There was associated decline in motor function, slumped posture, and an unsteady gait. Key findings included rapid cognitive impairment, apraxia, ataxia, hyperreflexia, and hypertonia. After extensive diagnostic examinations, including magnetic resonance imaging (MRI) head and cerebrospinal fluid real-time quaking-induced conversion (CSF RT-QuIC), she was diagnosed with sporadic Creutzfeldt-Jakob disease using criteria set by the national CJD research and surveillance unit (NCJDRSU). MRI head showed multifocal cortical ribboning on diffusion-weighted imaging and borderline right caudate hyperintensity. Unfortunately, there is no cure for CJD, and treatment is purely supportive with palliative care input, family counseling, and anticipatory medications. Her symptoms worsened quickly, and she passed away eight weeks after the onset.
克雅氏病(CJD)是一种致命的神经退行性疾病,会导致快速的认知衰退、痴呆和神经功能恶化。CJD有多种形式,包括散发性克雅氏病(sCJD),它占大多数病例,以及变异型克雅氏病(vCJD),与接触牛海绵状脑病(BSE或疯牛病)有关。该疾病由异常的朊病毒蛋白引起,这些蛋白会损害大脑并导致死亡。CJD无一例外都是致命的,无法治愈,大多数病例在诊断后的几个月到一年内死亡。我们报告一名64岁女性,有四周渐进性但突然的认知功能衰退和记忆力丧失病史。同时伴有运动功能下降、姿势萎靡和步态不稳。主要发现包括快速认知障碍、失用症、共济失调、反射亢进和张力亢进。经过广泛的诊断检查,包括头部磁共振成像(MRI)和脑脊液实时震颤诱导转化(CSF RT-QuIC),根据国家CJD研究和监测单位(NCJDRSU)制定的标准,她被诊断为散发性克雅氏病。头部MRI在弥散加权成像上显示多灶性皮质带状改变,右侧尾状核有边缘性高信号。不幸的是,CJD无法治愈,治疗完全是支持性的,包括姑息治疗、家庭咨询和预防性用药。她的症状迅速恶化,发病八周后去世。