Yazbeck Elise, Maurey Hélène, Leroy Carole, Horellou Philippe, Napuri Silvia, Lali Mohammed, Adam Clovis, Husson Beatrice, Sevin Caroline, Deiva Kumaran
Pediatric Neurology Department, Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris Saclay, Bicêtre Hospital, Le Kremlin Bicêtre, France.
National Referral Center for Rare Inflammatory and Auto-Immune Brain and Spinal Diseases, Le Kremlin-Bicêtre, France.
Neuropediatrics. 2021 Aug;52(4):337-340. doi: 10.1055/s-0041-1726289. Epub 2021 Mar 31.
Acquired demyelinating syndromes (ADS) are frequently associated with myelin oligodendrocytes glycoprotein (MOG) antibodies in children. Clinical phenotypes are heterogeneous and may delay the diagnosis, especially when they relapse and are atypical, mimicking diseases such as multiple sclerosis or neuromyelitis optica spectrum disorders . Here, we describe two children: one with a progressive cognitive and behavioral deterioration with seizures after only one relapse and the other with similar clinical impairments associated with multiple relapses. Brain magnetic resonance imaging revealed a subsequent progressive leukodystrophy-like lesion with diffuse bilateral white matter injuries in both patients. Cerebrospinal fluid analysis showed pleiocytosis, increased level of proteins with no oligoclonal bands. Metabolic and inflammatory blood markers were all negative. Brain biopsy was performed in the second child and nonspecific inflammatory lesions with no argument for histiocytosis or tumor were observed. Clinical and radiological stabilization were obtained after active immunotherapy. Retrospective analysis of anti-MOG antibodies in these two children was positive at the earlier stage of the disease and turned negative after treatment and during follow-up. Leukodystrophy-like ADS with anti-MOG-antibodies may display distinct progressive phenotype and have a severe neurological prognosis. Early diagnosis and appropriate treatment may improve outcome in these children.
获得性脱髓鞘综合征（ADS）在儿童中常与髓鞘少突胶质细胞糖蛋白（MOG）抗体相关。临床表型具有异质性，可能会延迟诊断，尤其是当病情复发且表现不典型，类似多发性硬化症或视神经脊髓炎谱系障碍等疾病时。在此，我们描述两名儿童：一名在仅一次复发后出现进行性认知和行为恶化并伴有癫痫发作，另一名伴有多次复发且有类似的临床损伤。脑部磁共振成像显示两名患者随后均出现进行性白质营养不良样病变，伴有双侧弥漫性白质损伤。脑脊液分析显示有细胞增多，蛋白质水平升高但无寡克隆带。代谢和炎症血液标志物均为阴性。对第二名儿童进行了脑活检，观察到非特异性炎性病变，未发现组织细胞增多症或肿瘤的依据。积极免疫治疗后获得了临床和影像学稳定。对这两名儿童抗MOG抗体的回顾性分析在疾病早期呈阳性，治疗后及随访期间转为阴性。伴有抗MOG抗体的白质营养不良样ADS可能表现出独特的进行性表型，且有严重的神经学预后。早期诊断和适当治疗可能改善这些儿童的预后。
