缺乏视神经炎和脊髓炎表现的AQP4抗体阳性自身免疫性NMO的病例报告

A case report of AQP4 antibody-positive autoimmune NMO lacking manifestations of optic neuritis and myelitis

视神经脊髓炎(NMO)是一种以炎性视神经炎和脊髓炎为特征表现、预后结果不良的炎性脱髓鞘类疾病。以前此病通常被误诊为多发性硬化(MS),但区分NMO和MS非常重要,因为用于MS的治疗方法在NMO中是无效的。aquaporin-4(AQP4)抗体是NMO的病原性和诊断性生物标志物。本文选取了1例AQP4抗体阳性的12岁女性患儿,伴随顽固性呃逆和恶心。脑磁共振成像(MRI)显示:脑干、下丘脑出现异常信号。然而,她没有视神经炎或脊髓炎相关的临床表现或影像学征象。所以作者建议,对于特征性NMO相关病变,即使患儿缺乏视神经或脊髓病变,也应考虑检测AQP4抗体以进行诊断及选择性治疗。

neuromyelitis optica(NMO)is an inflammatory demyelinating disease characterized by inflammatory optic neuritis and myelitis with poor prognosis.Previously,this disease is usually misdiagnosed as multiple sclerosis(MS),but it is important to distinguish NMO from MS because the treatment methods used for MS are ineffective in NMO patients.Aquaporin-4(AQP4)antibody is a pathogenic and diagnostic biomarker of NMO.This paper reports a 12-year-old female child with AQP4 antibody positive accompanied by intractable hiccup and nausea.Brain magnetic resonance imaging(MRI)showed abnormal signals in brainstem and hypothalamus.However,she had no clinical or imaging findings related to the optic nerve or myelitis.Therefore,the author suggests that the detection of AQP4 antibody should be considered for diagnosis and selective treatment of characteristic NMO-related lesions even if the patients lack optic nerve or spinal cord lesions.