抗亮氨酸丰富型胶质瘤失活蛋白 1 抗体相关自身免疫性小脑性共济失调：两例儿科病例。
Autoimmune cerebellar ataxia associated with anti-leucine-rich glioma-inactivated protein 1 antibodies: Two pediatric cases.
机构信息
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Beijing, China.
Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
出版信息
J Neuroimmunol. 2022 Sep 15;370:577918. doi: 10.1016/j.jneuroim.2022.577918. Epub 2022 Jun 25.
OBJECTIVES
To report two pediatric cases of autoimmune cerebellar ataxia associated with the anti-Leucine-rich glioma-inactivated protein 1 (LGI1)antibodies.
METHODS
The clinical features of the two patients were described retrospectively. The indirect immunofluorescence using transfected cells (cell-based assay, CBA) and the rat cerebellum (tissue-based assay, TBA) with the multi-antigen co-plate biochip mosaic techniques were used to detect the antibodies. Clinical and laboratory characteristics were described.
RESULTS
Two males were included. The onset ages were 2.7y and 4y, respectively. Patient 1 manifested as isolated acute cerebellar ataxia. Patient 2 had extra-cerebellar symptoms, including seizures, encephalopathy, faciobrachial dystonic seizures(FBDs), and significant cerebellar ataxia. The hyponatremia and tumors were not found. Both of them responded well to the immunotherapy.
CONCLUSIONS
The autoimmune cerebellar ataxia might be a new phenotype of LGI1-Abs autoimmunity in children.
目的
报告两例与抗亮氨酸丰富胶质瘤失活蛋白 1（LGI1）抗体相关的自身免疫性小脑性共济失调的儿科病例。
方法
回顾性描述了两名患者的临床特征。采用转染细胞（基于细胞的测定法，CBA）和多抗原共板生物芯片镶嵌技术的大鼠小脑（基于组织的测定法，TBA）进行间接免疫荧光法检测抗体。描述了临床和实验室特征。
结果
两名男性患者，发病年龄分别为 2.7 岁和 4 岁。患者 1表现为孤立性急性小脑性共济失调。患者 2有小脑外症状，包括癫痫、脑病、面肩肱型肌阵挛（FBDs）和明显的小脑性共济失调。未发现低钠血症和肿瘤。两者均对免疫疗法反应良好。
结论
自身免疫性小脑性共济失调可能是儿童 LGI1-Abs 自身免疫的一种新表型。
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