Nunes Ana Teresa, Fonseca Ana Cláudia, Pinto Filomena
Ophthalmology Department, Centro Hospitalar Lisboa Norte/Hospital Santa Maria, Lisboa, Portugal.
GMS Ophthalmol Cases. 2014 Dec 2;4:Doc09. doi: 10.3205/oc000022. eCollection 2014.
Neuromyelitis optica (NMO) is a severe demyelinating syndrome characterized by optic neuritis (ON) and acute myelitis. The NMO spectrum is actually recognized to typically evolve as a relapsing disorder that also includes patients with atypical unilateral ON and those with index events of ON and myelitis occurring weeks or even years apart (Jarius/Wildemann 2013). NMO was previously assumed to be a variant of multiple sclerosis (MS), but the discovery of aquaporin-4 antibodies in patients with neuromyelitis optica has led to this view being revised (Mandler 2006, Barnett/Sutton 2012, Wingerchuk et al. 2007). The cause of the condition is still unknown, but it has been shown that the antibodies bind selectively to a water channel expressed mainly on astrocytes at the blood-brain-barrier, which has an important role in the regulation of brain volume and ion homeostasis. However, there are some patients with NMO that are antibodies negative. The diagnosis is made on the basis of case history, clinical examination, magnetic resonance imaging (MRI) of the brain and spinal cord, analysis of cerebrospinal fluid (CSF), visual evoked potentials and a blood test with analysis of aquaporin-4 antibodies (Barnett/Sutton 2012, Wingerchuk et al. 2007, Thornton et al. 2011). This suggests that periodical revisions of established concepts and diagnostic criteria are necessary.
The authors describe an extremely rare case of neuromyelitis optica and the aim of this paper is to call attention for the cases of NMO whith NMO-IgG negative.
The selected method is a case report.
To date the patient showed partial recovery of left eye acuity and improvement of muscle strength of upper and lower limbs and does not show recurrence of the disease.
NMO has a distinct clinical, imaging and immunopathological features sufficient to distinguish it from MS. This distinction is essential, because the treatment and the prognosis is different.
视神经脊髓炎（NMO）是一种严重的脱髓鞘综合征，其特征为视神经炎（ON）和急性脊髓炎。实际上，视神经脊髓炎谱系疾病被认为通常会发展为一种复发型疾病，其中还包括非典型单侧视神经炎患者以及视神经炎和脊髓炎发病时间相隔数周甚至数年的首发事件患者（雅留斯/维尔德曼，2013年）。视神经脊髓炎以前被认为是多发性硬化症（MS）的一种变体，但在视神经脊髓炎患者中发现水通道蛋白4抗体后，这一观点得到了修正（曼德勒，2006年；巴尼特/萨顿，2012年；温格丘克等人，2007年）。该病病因尚不清楚，但已表明这些抗体选择性地结合于主要在血脑屏障处星形胶质细胞上表达的一种水通道，这在脑容量调节和离子稳态中起重要作用。然而，有一些视神经脊髓炎患者抗体呈阴性。诊断基于病史、临床检查、脑和脊髓的磁共振成像（MRI）、脑脊液（CSF）分析、视觉诱发电位以及检测水通道蛋白4抗体的血液检测（巴尼特/萨顿，2012年；温格丘克等人，2007年；桑顿等人，2011年）。这表明有必要定期修订既定概念和诊断标准。
作者描述了一例极其罕见的视神经脊髓炎病例，本文旨在引起对水通道蛋白4抗体阴性的视神经脊髓炎病例的关注。
所选方法为病例报告。
迄今为止，该患者左眼视力部分恢复，上肢和下肢肌力有所改善，且未出现疾病复发。
视神经脊髓炎具有独特的临床、影像学和免疫病理学特征，足以将其与多发性硬化症区分开来。这种区分至关重要，因为治疗方法和预后有所不同。
