Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：克雅氏病（CJD）是一种致命的退行性脑疾病，其特征是快速进行性痴呆。散发性CJD（sCJD）是最著名和最常见的亚型。因为这种疾病并不常见，并且表现出高度多样化的症状，早期诊断具有挑战性。我们在此报告了一例在非常早期被诊断为可能的sCJD的病例。
方法：一名61岁的女性患者有几个月的轻度注意力和记忆问题，丈夫注意到了这些问题，但没有打扰她，也没有影响她的日常生活活动。另一家医院的第一次脑部磁共振成像（MRI）正常，缺乏弥散加权成像（DWI）。尽管新拍摄的没有DWI的脑部MRI是正常的，病人的丈夫把他的病人带到我们的门诊，因为他继续认为他妻子的注意力和记忆力是不同的。对患者的神经系统检查显示几乎正常的发现。患者的神经精神评估与轻度认知障碍一致。患者入院时的脑电图没有CJD的特征性发现，但表现为全身性癫痫样活动。因此,病人住院了,和第二次脑部核磁共振，包括DWI序列，已执行。DWI显示双侧不对称的典型受限扩散模式。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。稍后，病人发展为进行性痴呆,共济失调,癫痫发作,锥体外系症状,其次是mutism,死了.
结论：尽管目前尚无治愈CJD的方法，早期诊断至关重要，主要是因为它潜在的传染性和未来的规划。在早期阶段诊断sCJD是困难的。然而,在认知评估中，不仅要考虑患者的病史，还要考虑他们的长期伴侣，这将有助于做出早期和准确的诊断。
方法：一名61岁的女性患者有几个月的轻度注意力和记忆问题，丈夫注意到了这些问题，但没有打扰她，也没有影响她的日常生活活动。另一家医院的第一次脑部磁共振成像（MRI）正常，缺乏弥散加权成像（DWI）。尽管新拍摄的没有DWI的脑部MRI是正常的，病人的丈夫把他的病人带到我们的门诊，因为他继续认为他妻子的注意力和记忆力是不同的。对患者的神经系统检查显示几乎正常的发现。患者的神经精神评估与轻度认知障碍一致。患者入院时的脑电图没有CJD的特征性发现，但表现为全身性癫痫样活动。因此,病人住院了,和第二次脑部核磁共振，包括DWI序列，已执行。DWI显示双侧不对称的典型受限扩散模式。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。稍后，病人发展为进行性痴呆,共济失调,癫痫发作,锥体外系症状,其次是mutism,死了.
结论：尽管目前尚无治愈CJD的方法，早期诊断至关重要，主要是因为它潜在的传染性和未来的规划。在早期阶段诊断sCJD是困难的。然而,在认知评估中，不仅要考虑患者的病史，还要考虑他们的长期伴侣，这将有助于做出早期和准确的诊断。
