Department of Neurology, West China Hospital, Sichuan University, No. 37 Guoxue Road, Chengdu, Sichuan 610041, People's Republic of China.
Department of Neurology, First People's Hospital of Longquanyi District, Chengdu, Sichuan, People's Republic of China.
Mult Scler Relat Disord. 2020 May;40:101979. doi: 10.1016/j.msard.2020.101979. Epub 2020 Feb 1.
Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing, demyelinating, inflammatory disease associated with aquaporin-4 (AQP4) antibody in the central nervous system. Ankylosing spondylitis (AS), which is closely associated with leukocyte antigen B27 (HLA-B27), is a chronic inflammatory disease that primarily affects the axial skeleton. We describe the case of a 46-year-old Chinese female, with one-year history of optic neuritis, was admitted to our hospital with a complaint of bilateral lower limbs and perineum numbness for one month. AQP4-IgG antibodies were positive in both the serum and cerebrospinal fluid of the patient. Additionally, HLA-B27 was positive in the serum. Contrast-enhanced computed tomography scan revealed bilateral sacroiliitis. Magnetic resonance imaging of the spinal cord showed T2 hyperintense lesions in conus medullaris, C8-T1 and T11 of spinal cord. The patient's symptom improved after twice methylprednisolone and mycophenolate mofetil treatment. To our best knowledge, this is the first reported case of concomitant AQP4-positive NMOSD and HLA-B27-positive AS. Systematic studies on the association of NMOSD and AS are needed to clarify whether this coincidence is just a casual phenomenon or whether it points to a yet undiscovered link.
视神经脊髓炎谱系疾病(NMOSD)是一种与中枢神经系统水通道蛋白-4(AQP4)抗体相关的复发性脱髓鞘炎症性疾病。强直性脊柱炎(AS)与白细胞抗原 B27(HLA-B27)密切相关,是一种主要影响中轴骨骼的慢性炎症性疾病。我们描述了一位 46 岁的中国女性,她患有视神经炎一年,因双侧下肢和会阴部麻木一个月而入院。患者血清和脑脊液中 AQP4-IgG 抗体均为阳性,血清 HLA-B27 阳性。增强 CT 扫描显示双侧骶髂关节炎。脊髓磁共振成像显示圆锥部、C8-T1 和 T11 脊髓 T2 高信号病变。患者经两次甲基强的松龙和霉酚酸酯治疗后症状改善。据我们所知,这是首例同时伴有 AQP4 阳性 NMOSD 和 HLA-B27 阳性 AS 的病例。需要对 NMOSD 和 AS 的相关性进行系统研究,以明确这种巧合是偶然现象还是指向尚未发现的联系。