Department of Neurology, University Hospital of Münster, Münster, Germany.
NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
J Neurol Neurosurg Psychiatry. 2016 Dec;87(12):1287-1295. doi: 10.1136/jnnp-2016-314295. Epub 2016 Oct 25.
Susac syndrome is characterised by the triad of encephalopathy with or without focal neurological signs, branch retinal artery occlusions and hearing loss. Establishment of the diagnosis is often delayed because the triad is complete only in a minority of patients at disease onset. This leads to a critical delay in the initiation of appropriate treatment. Our objective was to establish criteria for diagnosis of either definite or probable Susac syndrome.
The establishment of diagnostic criteria was based on the following three steps: (1) Definition of a reference group of 32 patients with an unambiguous diagnosis of Susac syndrome as assessed by all interdisciplinary experts of the European Susac Consortium (EuSaC) team (EuSaC cohort); (2) selection of diagnostic criteria, based on common clinical and paraclinical findings in the EuSaC cohort and on a review of the literature; and (3) validation of the proposed criteria in the previously published cohort of all Susac cases reported until 2012.
Integrating the clinical presentation and paraclinical findings, we propose formal criteria and recommend a diagnostic workup to facilitate the diagnosis of Susac syndrome. More than 90% of the cases in the literature fulfilled the proposed criteria for probable or definite Susac syndrome. We surmise that more patients could have been diagnosed with the recommended diagnostic workup.
We propose diagnostic criteria for Susac syndrome that may help both experts and physicians not familiar with Susac syndrome to make a correct diagnosis and to prevent delayed treatment initiation.
Susac 综合征的特征为脑病伴有或不伴有局灶性神经体征、视网膜分支动脉阻塞和听力损失三联征。由于三联征在疾病发作时仅少数患者完全出现，因此常导致诊断延迟，从而使适当治疗的启动延迟。我们的目标是建立明确或可能的 Susac 综合征的诊断标准。
诊断标准的建立基于以下三个步骤：（1）通过欧洲 Susac 联合会（EuSaC）团队的所有跨学科专家评估，明确诊断为 Susac 综合征的参考组 32 例患者的定义（EuSaC 队列）；（2）基于 EuSaC 队列中的常见临床和辅助检查结果以及文献复习选择诊断标准；（3）在截至 2012 年之前已发表的所有 Susac 病例队列中验证提出的标准。
综合临床表现和辅助检查结果，我们提出了正式的标准，并建议进行诊断性检查，以促进 Susac 综合征的诊断。文献中的超过 90%的病例符合可能或明确的 Susac 综合征的提出标准。我们推测，更多的患者可能可以通过推荐的诊断性检查进行诊断。
我们提出了 Susac 综合征的诊断标准，这可能有助于专家和不熟悉 Susac 综合征的医生做出正确的诊断，并防止治疗延迟。
