Department of Neurology, Ankara Bilkent City Hospital, Universiteler Mahallesi 1604. Cadde No: 9 Çankaya, Ankara, Turkey.
Curr Alzheimer Res. 2024;21(3):214-218. doi: 10.2174/0115672050309694240708052535.
Creutzfeldt-Jakob disease (CJD) is a fatal degenerative brain disease characterized by rapidly progressive dementia. Sporadic CJD (sCJD) is the best-known and most common subtype. Because the disease is uncommon and has highly diverse presenting symptoms, early diagnosis is challenging. We herein report a case of probable sCJD diagnosed at a very early stage.
A 61-year-old female patient had mild attention and memory problems for a few months that were noticed by her husband but did not bother her and did not affect her daily life activities. The first brain magnetic resonance imaging (MRI) at another hospital was normal, lacking diffusion-weighted imaging (DWI). Although the newly taken brain MRI without DWI was normal, the patient's husband brought his patient to our outpatient clinic because he continued to think that there was a difference in his wife's attention and memory. A neurological examination of the patient revealed almost normal findings. The neuropsychiatric evaluation of the patient was consistent with mild cognitive impairment. The patient's electroencephalography taken upon admission had no characteristic findings for CJD but showed generalized epileptiform activity. Therefore, the patient was hospitalized, and a second brain MRI, including DWI sequences, was performed. DWI displayed bilateral asymmetrical typical patterns of restricted diffusion. Cerebrospinal fluid 14-3-3 was positive, and total-tau was highly elevated. She had a diagnosis of probable sCJD at an early stage. Later, the patient developed progressive dementia, ataxia, seizures, and extrapyramidal symptoms, followed by mutism, and died.
Although there is no cure for CJD today, early diagnosis is essential, mainly because of its potential infectivity and for future planning. Diagnosing sCJD in its early stages is difficult. However, taking into account the observations of not only the patient's history but also their longterm partners in cognitive evaluations will be helpful in making an early and accurate diagnosis.
克雅氏病（CJD）是一种致命的退行性脑部疾病，其特征为快速进行性痴呆。散发性克雅氏病（sCJD）是最知名和最常见的亚型。由于该疾病罕见且具有高度多样化的表现症状，早期诊断具有挑战性。本文报告了一例极早期诊断的可能 sCJD 病例。
一名 61 岁女性患者有几个月的轻度注意力和记忆力问题，这些问题被她的丈夫发现，但并未困扰她，也未影响她的日常生活活动。在另一家医院进行的首次脑部磁共振成像（MRI）检查正常，缺乏弥散加权成像（DWI）。尽管新进行的无 DWI 的脑部 MRI 正常，但患者的丈夫因持续认为其妻子的注意力和记忆力存在差异而将其带到我们的门诊就诊。对患者进行的神经检查发现几乎正常。对患者进行的神经心理学评估与轻度认知障碍一致。患者入院时的脑电图检查对 CJD 无特征性发现，但显示出广泛的癫痫样活动。因此，患者住院，并进行了第二次包括 DWI 序列的脑部 MRI。DWI 显示双侧非对称典型的受限弥散模式。脑脊液 14-3-3 阳性，总 tau 高度升高。她在早期被诊断为可能的 sCJD。后来，患者逐渐出现进行性痴呆、共济失调、癫痫和锥体外系症状，随后出现缄默症，并死亡。
尽管目前尚无针对 CJD 的治愈方法，但早期诊断至关重要，主要是因为其潜在的传染性，以及对未来的规划。早期诊断 sCJD 具有一定难度。然而，考虑到不仅患者的病史，还有其认知评估中的长期伴侣的观察结果，将有助于做出早期、准确的诊断。
