Anti-IgLON5 disease in a pediatric patient with Langerhans cell histiocytosis
Anti-IgLON5 disease in a pediatric patient with Langerhans cell histiocytosis
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朗格汉斯细胞组织细胞增多症儿科患者的抗 IgLON5 疾病
DOI：
10.1016/j.cca.2021.07.008
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发表时间：
2021-07-28
影响因子：
5
通讯作者：
Yang, Liangchun
中科院分区：
文献类型：
--
作者：
Ye, Fanghua;Fan, Chenying;Yang, Liangchun
简介：抗IgLON5疾病是一种罕见的中枢神经系统自身免疫性疾病。与以往的自身免疫性脑炎不同，该病是一种以睡眠异常、睡眠呼吸暂停和运动障碍为特征的慢性进行性疾病，容易发生误诊、漏诊。方法：我们报告了一名朗格汉斯细胞组织细胞增多症 (LCH) 儿科患者的抗 IgLON5 疾病的独特病例。在化疗期间，他逐渐出现肌张力增加和眼球震颤，并在颅脑成像上显示出脑膜增强的迹象。由于LCH侵入中枢神经系统的证据不足，因此通过间接免疫荧光测定（IFA）中基于细胞的测定（CBA）实验来研究自身免疫性脑炎相关抗体的存在。结果：睡眠障碍和运动障碍的临床表现，加上血清中存在 IgLON5 IgG 抗体 (1:30)，确诊为抗 IgLON5 疾病。结论：抗IgLON5疾病很少见，几乎没有儿童病例的报道。鉴于儿科患者的症状难以识别，尤其是患有其他合并症的患者。临床医生应提高对该病的认识，重视自身免疫抗体的检测。
Introduction: Anti-IgLON5 disease is a rare autoimmune disease of the central nervous system. Different from the previous autoimmune encephalitis, the disease is a chronic progressive disease characterized by abnormal sleep, sleep apnea and motor disorders, which is prone to misdiagnosis and missed diagnosis. Methods: We report a unique case of anti-IgLON5 disease in a pediatric patient with Langerhans cell histiocytosis (LCH). He gradually developed increased muscle tone and nystagmus during chemotherapy and showed signs of meningeal enhancement on cranial imaging. Due to insufficient evidence of LCH invasion of the central nervous system, the presence of autoimmune encephalitis-related antibodies was investigated by using cell-based assay (CBA) experiment in indirect immuno-fluorescence assay (IFA). Results: Clinical manifestations of sleep disorders and motor disorders, plus the presence of IgLON5 IgG antibodies (1:30) in the serum leading to a confirmed diagnosis of anti-IgLON5 disease. Conclusion: Anti-IgLON5 disease is rare and almost no cases of children have been reported. In view of the difficult to recognize symptoms in pediatric patients, especially those with other comorbidities. Clinicians should raise their awareness of this disease and pay attention to the detection of autoimmune antibodies.