Szewczyk Anna K, Papuć Ewa, Mitosek-Szewczyk Krystyna, Woś Michał, Rejdak Konrad
Doctoral School, Medical University of Lublin, ul. Chodźki 7, 20-093 Lublin, Poland.
Department of Neurology, Medical University of Lublin, ul. Jaczewskiego 8, 20-954 Lublin, Poland.
Brain Sci. 2022 Jul 6;12(7):885. doi: 10.3390/brainsci12070885.
(1) Background: The emergence of white matter lesions in the central nervous system (CNS) can lead to diagnostic dilemmas. They are a common radiological symptom and their patterns may overlap CNS or systemic diseases and provoke underdiagnosis or misdiagnosis. The aim of the study was to assess factors influencing the underdiagnosis of neuromyelitis optica spectrum disorder (NMOSD) as well as to estimate NMOSD epidemiology in Lubelskie voivodeship, Poland. (2) Methods: This retrospective study included 1112 patients, who were made a tentative or an established diagnosis of acute or subacute onset of neurological deficits. The evaluation was based on medical history, neurological examination, laboratory and radiographic results and fulfilment of diagnosis criteria. (3) Results: Up to 1.62 percent of patients diagnosed with white matter lesions and up to 2.2% of the patients previously diagnosed with MS may suffer from NMOSD. The duration of delayed diagnosis is longer for males, despite the earlier age of onset. Seropositive cases for antibodies against aquaporin-4 have worse prognosis for degree of disability. (4) Conclusions: Underdiagnosis or misdiagnosis in NMOSD still remains a problem in clinical practice and has important implications for patients. The incorrect diagnosis is caused by atypical presentation or NMOSD-mimics; however, covariates such as gender, onset and diagnosis age may also have an influence.
(1) 背景：中枢神经系统（CNS）中白质病变的出现可能导致诊断困境。它们是一种常见的影像学症状，其表现形式可能与中枢神经系统或全身性疾病重叠，从而引发漏诊或误诊。本研究的目的是评估影响视神经脊髓炎谱系障碍（NMOSD）漏诊的因素，并估计波兰卢布林省NMOSD的流行病学情况。(2) 方法：这项回顾性研究纳入了1112例患者，这些患者被初步诊断或确诊为急性或亚急性起病的神经功能缺损。评估基于病史、神经系统检查、实验室和影像学结果以及诊断标准的满足情况。(3) 结果：诊断为白质病变的患者中，高达1.62%可能患有NMOSD，先前诊断为MS的患者中，这一比例高达2.2%。尽管男性发病年龄较早，但延迟诊断的时间更长。抗水通道蛋白4抗体血清学阳性的病例，其残疾程度预后较差。(4) 结论：NMOSD的漏诊或误诊在临床实践中仍然是一个问题，对患者具有重要影响。诊断错误是由非典型表现或NMOSD模仿症引起的；然而，诸如性别、发病和诊断年龄等协变量也可能产生影响。
