背景:克雅氏病(CJD)是一种由朊病毒引起的快速进展且最终致命的神经退行性疾病。CJD的临床症状随其亚型而不同,可能包括痴呆症,视觉幻觉,肌阵鸣,共济失调,(额外的)锥体体征和运动障碍。然而,在疾病的早期,CJD的几种临床症状可能与并存的疾病相似.
方法:我们报告了一名60多岁的男性,有全位倒位和ChurgStrauss综合征的病史,出现言语流畅障碍的人,神经精神症状和异常性疼痛,几个月后成为一个寡妇。最初被认为是丧亲之痛和ChurgStrauss的爆发,他的症状随着失用症逐渐恶化,肌阵挛性抽搐,最终,运动障碍。MRI显示尾状核和丘脑高信号,而脑脊液对14-3-3蛋白和实时快速检测呈阳性,使CJD的诊断高度可能。这种情况说明了当预先存在的多发病可能使临床表现模糊时,诊断CJD可能会出现的复杂性。我们还讨论了三种罕见情况(situsinversustotalis,ChurgStrauss综合征,CJD)在一名患者中,考虑到巧合的可能性以及共同的潜在因素。
结论:当CJD的临床症状被先前存在的(罕见的)多发病掩盖时,CJD的诊断可能很容易被错过。这个案例突出表明,当多发性疾病有神经系统表现时,广泛的评估对于确定诊断仍然至关重要,将朊病毒传播的风险降至最低,并为患者及其护理人员提供适当的指导。
BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities.
METHODS: We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This
case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors.
CONCLUSIONS: The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This
case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.