Paterson Ross W, Torres-Chae Charles C, Kuo Amy L, Ando Tim, Nguyen Elizabeth A, Wong Katherine, DeArmond Stephen J, Haman Aissa, Garcia Paul, Johnson David Y, Miller Bruce L, Geschwind Michael D
Arch Neurol. 2012 Dec;69(12):1578-82. doi: 10.1001/2013.jamaneurol.79.
To identify the misdiagnoses of patients with sporadic Jakob-Creutzfeldt disease (sCJD) during the course of their disease and determine which medical specialties saw patients with sCJD prior to the correct diagnosis being made and at what point in the disease course a correct diagnosis was made.
Retrospective medical record review.
A specialty referral center of a tertiary academic medical center.
One hundred sixty-three serial patients over a 5.5-year period who ultimately had pathologically proven sCJD. The study used the subset of 97 patients for whom we had adequate medical records.
Other diagnoses considered in the differential diagnosis and types of medical specialties assessing patients with sCJD.
Ninety-seven subjects' records were used in the final analysis. The most common disease categories of misdiagnosis were neurodegenerative, autoimmune/paraneoplastic, infectious, and toxic/metabolic disorders. The most common individual misdiagnoses were viral encephalitis, paraneoplastic disorder, depression, vertigo, Alzheimer disease, stroke, unspecified dementia, central nervous system vasculitis, peripheral neuropathy, and Hashimoto encephalopathy. The physicians who most commonly made these misdiagnoses were primary care physicians and neurologists; in the 18% of patients who were diagnosed correctly at their first assessment, the diagnosis was almost always by a neurologist. The mean time from onset to diagnosis was 7.9 months, an average of two-thirds of the way through their disease course.
Diagnosis of sCJD is quite delayed. When evaluating patients with rapidly progressive dementia with suspected neurodegenerative, autoimmune, infectious, or toxic/metabolic etiology, sCJD should also be included in the differential diagnosis, and appropriate diagnostic tests, such as diffusion brain magnetic resonance imaging, should be considered. Primary care physicians and neurologists need improved training in sCJD diagnosis.
确定散发性克雅氏病（sCJD）患者在病程中的误诊情况，并确定在做出正确诊断之前，哪些医学专科诊治过sCJD患者，以及在病程的哪个阶段做出了正确诊断。
回顾性病历审查。
一所三级学术医疗中心的专科转诊中心。
在5.5年期间连续纳入的163例最终经病理证实为sCJD的患者。本研究使用了有完整病历的97例患者的子集。
鉴别诊断中考虑的其他诊断以及评估sCJD患者的医学专科类型。
最终分析使用了97例受试者的记录。最常见的误诊疾病类别为神经退行性疾病、自身免疫/副肿瘤性疾病、感染性疾病以及中毒/代谢性疾病。最常见的个体误诊为病毒性脑炎、副肿瘤性疾病、抑郁症、眩晕、阿尔茨海默病、中风、未特指的痴呆、中枢神经系统血管炎、周围神经病和桥本脑病。最常做出这些误诊的医生是初级保健医生和神经科医生；在首次评估时被正确诊断的18%的患者中，诊断几乎总是由神经科医生做出。从发病到诊断的平均时间为7.9个月，平均约为病程的三分之二。
sCJD的诊断相当延迟。在评估疑似神经退行性、自身免疫性、感染性或中毒/代谢性病因的快速进展性痴呆患者时，鉴别诊断中也应考虑sCJD，并应考虑进行适当的诊断检查，如扩散加权脑磁共振成像。初级保健医生和神经科医生在sCJD诊断方面需要改进培训。
