Guzmán Jorge, Vera Francisco, Soler Bernardita, Uribe-San-Martin Reinaldo, García Lorena, Del-Canto Adolfo, Schlatter Andrea, Salazar Mauricio, Molt Fernando, Ramirez Karla, Marín José, Pelayo Carolina, Cruz Juan Pablo, Bravo-Grau Sebastián, Cárcamo Claudia, Ciampi Ethel
Neurology, Pontificia Universidad Católica de Chile, Santiago, Chile.
Clinical Laboratory, Pontificia Universidad Católica de Chile, Santiago, Chile.
Mult Scler Relat Disord. 2023 Jan;69:104442. doi: 10.1016/j.msard.2022.104442. Epub 2022 Dec 5.
Anti-Myelin Oligodendrocyte Glycoprotein (MOG) Antibody Associated Disease (MOGAD) is an emerging disorder recognized as a clinical entity distinct from Multiple Sclerosis and Aquaporin-4-positive Neuromyelitis Optica Spectrum Disorders (NMOSD-AQP4+), and its phenotypic spectrum continues to expand. Most information about its clinical course has emerged from retrospective studies, and treatment response both in acute and chronic-relapsing disease is still limited. We aimed to describe the clinical and paraclinical characteristics of monophasic and relapsing, paediatric and adult patients with MOGAD under regular clinical care in Chile, highlighting some challenging cases that are far from being considered benign.
Observational, retrospective, and prospective longitudinal multicentre study including patients with positive serum MOG-IgG assessed by cell-based assay.
We include 35 patients, 71% women, median age at onset 30 years (range 1-68), 23% had paediatric onset, with a median disease-duration 24 months (range 12-348). In the whole cohort, the most frequent symptoms at onset were isolated optic neuritis (ON) (34%) and myelitis (22%). Encephalitis with seizures or encephalomyelitis was the most common presentation in paediatric-onset patients 75% (n = 6), compared to 11% (n = 3) of the adult-onset patients (p < 0.001). A relapsing course was observed in 34%, these patients were younger (25 vs. 34 years, p = 0.004) and with a longer disease duration (64 vs. 6 months, p = 0.004) compared to monophasic patients. Two patients developed encephalitis with seizures/status epilepticus, with concomitant positive CSF anti-NMDAR-IgG. Chronic immunotherapy was ever prescribed in 77%, the most frequent was rituximab (35%). Relapses under chronic immunotherapy occurred in 5/27 patients (18.5%), two of them under rituximab, one paediatric patient who started combined therapy with monthly IVIG and one adult patient that switched to satralizumab plus mycophenolate. The median EDSS at the last follow-up was 1.5 (range 0-6.0).
In Chile, patients with MOGAD exhibit a wide spectrum of clinical presentations at disease onset and during relapses. Close monitoring is needed, particularly in younger patients with short follow-up periods.
抗髓鞘少突胶质细胞糖蛋白（MOG）抗体相关疾病（MOGAD）是一种新出现的疾病，被认为是一种有别于多发性硬化症和水通道蛋白4阳性视神经脊髓炎谱系障碍（NMOSD-AQP4+）的临床实体，其表型谱仍在不断扩大。关于其临床病程的大多数信息来自回顾性研究，急性和慢性复发疾病的治疗反应仍然有限。我们旨在描述智利在常规临床护理下的单相和复发型、儿童和成人MOGAD患者的临床和副临床特征，突出一些远非良性的具有挑战性的病例。
一项观察性、回顾性和前瞻性纵向多中心研究，纳入通过基于细胞的检测血清MOG-IgG呈阳性的患者。
我们纳入了35例患者，71%为女性，发病时的中位年龄为30岁（范围1-68岁），23%为儿童期发病，中位病程为24个月（范围12-348个月）。在整个队列中，发病时最常见的症状是孤立性视神经炎（ON）（34%）和脊髓炎（22%）。伴有癫痫发作的脑炎或脑脊髓炎是儿童期发病患者中最常见的表现，占75%（n = 6），而成人期发病患者中这一比例为11%（n = 3）（p < 0.001）。34%的患者观察到复发病程，与单相病程患者相比，这些患者更年轻（25岁对34岁，p = 0.004）且病程更长（64个月对6个月，p = 0.004）。2例患者发生伴有癫痫发作/癫痫持续状态的脑炎，脑脊液抗NMDAR-IgG同时呈阳性。77%的患者曾接受过慢性免疫治疗，最常用的是利妥昔单抗（35%）。27例接受慢性免疫治疗的患者中有5例（18.5%）复发，其中2例接受利妥昔单抗治疗，1例儿童患者开始联合每月静脉注射免疫球蛋白治疗，1例成人患者改用萨特利珠单抗加霉酚酸酯治疗。最后一次随访时的中位扩展残疾状态量表（EDSS）为1.5（范围0-6.0）。
在智利，MOGAD患者在疾病发作和复发期间表现出广泛的临床症状。需要密切监测，尤其是在随访期短的年轻患者中。
