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首页> 外文期刊>The Open Neurology Journal >E200k Familial Creutzfeldt-Jakob Disease Presenting with Subacute Multiple Cranial Neuropathy
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E200k Familial Creutzfeldt-Jakob Disease Presenting with Subacute Multiple Cranial Neuropathy

机译：E200k家族性Creutzfeldt-Jakob病伴亚急性多发性颅神经病

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Unusual clinical presentations in patients with E200K familial Creutzfeldt-Jakob Disease (fCJD) have been rarely reported. Herein, we described a case of E200K fCJD presenting with subacute cranial multiple neuropathy, initially suspected to be paraneoplastic or due to a leptomeningeal carcinomatosis, considering the neoplastic comorbidity of the patient. Surprisingly, brain MRI was highly suggestive of CJD. Brain histological examination confirmed the diagnosis. Genetic tests led to the definite diagnosis of E200K fCJD. To the best of our knowledge, the current case provides the first report of a histologically-confirmed E200K fCJD starting with cranial multiple neuropathy and may widen the spectrum of the clinical variability of CJD, also in its genetic variant. Unusual presentations may lead, as in this case, to incorrect diagnostic hypothesis and unuseful therapeutic attempts in the first phase of the diagnostic process. Also in the genetic variant of CJD, brain MRI demonstrated a very high sensitivity to detect the typical abnormalities since the earliest phases of the disease.
机译：很少报道E200K家族性克雅氏病（fCJD）患者出现异常的临床表现。在这里，我们描述了一个E200K fCJD病例，考虑到患者的肿瘤合并症，最初患有亚急性颅多发性神经病，最初怀疑是副肿瘤性或由于软脑膜癌。令人惊讶的是，脑部MRI提示CJD。脑组织学检查证实了诊断。遗传检测导致对E200K fCJD的明确诊断。据我们所知，本病例首次报告了经组织学证实的E200K fCJD，其始于颅内多发性神经病，可能会扩大CJD临床变异的范围，也涉及其遗传变异。在这种情况下，不正常的提示可能会导致错误的诊断假设以及诊断过程第一阶段的无效治疗尝试。同样在CJD的遗传变异中，自该病的最早阶段以来，脑部MRI表现出非常高的灵敏度来检测典型异常。

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