Musso Giulia, Nosadini Margherita, Gallo Nicoletta, Sartori Stefano, Seguso Mara, Plebani Mario
Department of Laboratory Medicine, University-Hospital of Padova, via Giustiniani 2, 35128, Padova, Italy.
Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University-Hospital of Padova, Padova, Italy.
Neurol Sci. 2020 Sep;41(9):2553-2559. doi: 10.1007/s10072-020-04379-5. Epub 2020 Apr 3.
The differential diagnosis between acquired inflammatory demyelinating syndromes of the central nervous system (CNS), such as multiple sclerosis (MS), neuromyelitis optica spectrum disorders (NMOSD) and acute disseminated encephalomyelitis (ADEM) can be very challenging at onset. Apart from cerebrospinal fluid oligoclonal bands and anti-aquaporin-4 antibodies (AQP4-Ab), definite diagnostic biomarkers are lacking. Anti-myelin oligodendrocyte glycoprotein antibodies (MOG-Abs) have been increasingly described in children with AQP4-seronegative NMOSD, ADEM and other inflammatory demyelinating CND syndromes; despite partial overlaps with AQP4-Ab disease, a novel "MOG-Ab-disorder" phenotype has been suggested. In this study, we tested the presence of MOG-Ab and AQP4-Ab in 57 children at first onset of acute neurological symptoms; three clinical subgroups were identified: 12 patients had acquired inflammatory demyelinating CNS syndromes, 11 had other autoimmune/immune-mediated disorders of the central and peripheral nervous system and 34 had non-immune-mediated CNS disorders. MOG-Abs were found positive only in a subset of cases in the subgroup with acquired inflammatory demyelinating CNS syndromes (in 2/12 patients, both with non-MS phenotype) and in none of the patients with other autoimmune and immune-mediated disorders of the central and peripheral nervous system or with non-immune-mediated disorders of the CNS.Data from the literature review support clinical and analytical observations.
中枢神经系统(CNS)获得性炎性脱髓鞘综合征,如多发性硬化症(MS)、视神经脊髓炎谱系障碍(NMOSD)和急性播散性脑脊髓炎(ADEM),在发病初期的鉴别诊断可能极具挑战性。除了脑脊液寡克隆带和抗水通道蛋白4抗体(AQP4-Ab)外,缺乏明确的诊断生物标志物。抗髓鞘少突胶质细胞糖蛋白抗体(MOG-Abs)在AQP4血清阴性的NMOSD、ADEM和其他炎性脱髓鞘性CND综合征患儿中越来越多地被描述;尽管与AQP4-Ab疾病存在部分重叠,但已提出一种新的“MOG-Ab疾病”表型。在本研究中,我们检测了57例急性神经症状初发患儿中MOG-Ab和AQP4-Ab的存在情况;确定了三个临床亚组:12例患有获得性炎性脱髓鞘性CNS综合征,11例患有中枢和周围神经系统的其他自身免疫/免疫介导疾病,34例患有非免疫介导的CNS疾病。仅在获得性炎性脱髓鞘性CNS综合征亚组的一部分病例中发现MOG-Abs呈阳性(2/12例患者,均为非MS表型),而在中枢和周围神经系统的其他自身免疫和免疫介导疾病患者或非免疫介导的CNS疾病患者中均未发现。文献综述的数据支持临床和分析观察结果。