儿童抗Ma2抗体阳性脑炎2例并文献复习

doi:10.6040/j.issn.1671-7554.0.2021.0120

摘要/Abstract

摘要： 目的对2例怀疑自身免疫性脑炎的患儿进行抗体筛查,以寻找病因、明确诊断,加深对临床表现的认识,指导其治疗。方法 2例患儿均来自齐鲁医院儿童医疗中心神经科病房,临床表现分别为全身无力伴性格改变、抽搐伴语言运动障碍等。对患儿进行抗体筛查,并复习相关文献,了解其临床表现及治疗方案。结果本例患儿通过行抗体筛查,经免疫印迹法测得神经系统副肿瘤综合征六项抗Ma2血清抗体阳性,确诊为抗Ma2抗体阳性脑炎。并对比分析了国内外30例患者临床表现的特征,进一步加深对临床表现的认识。结论抗Ma2抗体阳性脑炎是由抗Ma2抗体引起,其临床表现多样,抗体筛查有利于提高此类罕见病的临床诊断率,免疫治疗后效果较好。

Abstract: Objective To screen the antibodies in 2 children with suspected autoimmune encephalitis, in order to explore the etiology, make a diagnosis, deepen the understanding of clinical manifestations, and guide the treatment. Methods Both children had clinical manifestations like general weakness with personality change, and convulsions with speech and motor disorders. Antibody screening was performed, and relevant literature was reviewed. Results Anti-Ma2 antibody serum antibodies were detected with Western blotting, and the patients were diagnosed as anti-Ma2 antibody positive encephalitis. The clinical features of 30 cases at home and abroad were compared and analyzed to deepen the understanding of the clinical manifestations. Conclusion Anti-Ma2 antibody positive encephalitis is caused by Anti-Ma2 antibody, and its clinical manifestations are varied. Antibody screening is beneficial to improve the diagnosis rate of this rare disease. Immunotherapy has good clinical efficacy.

Key words: Anti-MA2-associated encephalitis, Paraneoplastic syndrome, Autoimmune Encephalitis, Limbic encephalitis, Anti-neuronal cell antibodies

中图分类号:

R725.9

赵永恒,高靓,李保敏. 儿童抗Ma2抗体阳性脑炎2例并文献复习[J]. 山东大学学报 (医学版), 2021, 59(5): 96-103.

ZHAO Yongheng, GAO Liang, LI Baomin. Two cases of anti-Ma2 antibody positive encephalitis in children and literature review[J]. Journal of Shandong University (Health Sciences), 2021, 59(5): 96-103.

参考文献

[1] Gultekin SH, Rosenfeld MR, Voltz R, et al. Paraneoplastic limbic encephalitis: neurological symptoms, immunological findings and tumour association in 50 patients [J]. Brain, 2000, 123(Pt 7): 1481-1494.
[2] 卢蕻迪,韩睿,庞效敏,等. 抗Ma2抗体阳性的肺腺癌相关副肿瘤综合征1例报告[J]. 中风与神经疾病杂志, 2019, 36(3): 268-269. LU Hongdi, HAN Rui, PANG Xiaomin, et al. One case report of lung adenocarcina-associated paraneoplastic syndrome with anti-MA2 antibody positive [J]. Joural of Apoplexy and Nervous Diseases,2019, 36(3): 268-269.
[3] 梁婷婷,赵阳,姜兆彩,等. 抗Ma2抗体相关脑炎7例报告[J]. 中风与神经疾病杂志, 2017, 34(8): 732-733. LIANG Tingting, ZHAO Yang, JIANG Zhaocai, et al. A report of 7 cases of anti-MA2 antibody associated encephalitis [J]. Joural of Apoplexy and Nervous Diseases,2017, 34(8): 732-733.
[4] 张波, 戚利坤. Ma2抗体阳性边缘系统脑炎1例报告[J]. 临床神经病学杂志, 2015, 28(6): 478-479. ZHANG Bo, QI Likun. A case report of limbic encephalitis with positive MA2 antibody [J]. Journal of Clinical Neurology, 2015, 28(6): 478-479.
[5] 王爽, 王蕾, 孙莉, 等. 抗Ma2抗体阳性的淋巴瘤相关副肿瘤综合征1例报告[J]. 中风与神经疾病杂志, 2015, 32(9): 835-837. WANG Shuang, WANG Lei, SUN Li, et al. A case report of lymphoma-associated paraneoplastic syndrome with anti-MA2 antibody positive [J]. Joural of Apoplexy and Nervous Diseases,2015, 32(9): 835-837.
[6] 黄颜,关鸿志,郝红琳. 抗Ma2相关性脑炎继发RBD与发作性睡病一例报告[C]. 中华医学会第十七次全国神经病学学术会议论文汇编(上). 北京中华医学会、中华医学会神经病学分会,2014:1.
[7] Waragai M, Chiba A, Uchibori A, et al. Anti-MA2-associated paranoplastic nervous system syndrome presenting with encephalitis and progressive muscular atrophy[J]. J Neurol Neurosurg Psychiatry, 2006, 77(1): 111-113.
[8] 张淼, 郝洪军, 刘丽萍, 等. 抗Ma2边缘叶脑炎一例[J]. 中华神经科杂志, 2016, 49(1): 64-66. ZHANG Miao, HAO Hongjun, LIU Liping, et al. A case of anti-MA2 limbic encephalitis[J]. Chinese Journal of Neurology, 2016, 49(1): 64-66.
[9] Waragai M. Anti-Ma2 associated paraneoplastic neurological syndrome presenting as encephalitis and progressive muscular atrophy [J]. J Neurol Neurosurg Psychiatry, 2006, 77(1): 111-113.
[10] Compta Y, Iranzo A, Santamaría J, et al. REM sleep behavior disorder and narcoleptic features in anti-Ma2-associated encephalitis [J]. Sleep, 2007, 30(6): 767-769.
[11] Guan H, Huang Y, Zhong D, et al. Anti-Ma2 Paraneoplastic encephalitis associated with ileal lymphoma [J]. Chin Med J(Engl), 2015, 128(13): 1836-1837.
[12] Ney DE, Messersmith W, Behbakht K. Anti-Ma2 paraneoplastic encephalitis in association with recurrent cervical cancer [J]. J Clin Neurol, 2014, 10(3): 262-266.
[13] Ju W, Qi B, Wang X, et al. Anti-Ma2-associated limbic encephalitis with coexisting chronic inflammatory demyelinating polyneuropathy in a patient with non-Hodgkin lymphoma [J]. Medicine, 2017, 96(40): e8228. doi: 10.1097/MD.0000000000008228.
[14] Rojas-Marcos I, Graus F, Sanz G, et al. Hypersomnia as presenting symptom of anti-Ma2-associated encephalitis: case study [J]. Neuro Oncol, 2007, 9(1): 75-77.
[15] Lamby N, Leypoldt F, Schulz JB, et al. Atypical presentation of anti-Ma2-associated encephalitis with choreiform movement [J]. Neurol Neuroimmunol Neuroinflamm, 2019, 6(3): e557. doi: 10.1212/NXI.0000000000000557.
[16] Matsumoto L, Yamamoto T, Higashihara M, et al. Severe hypokinesis caused by paraneoplastic anti-Ma2 encephalitis associated with bilateral intratubular germ-cell neoplasm of the testes [J]. Mov Disord, 2007, 22(5): 728-731.
[17] Murphy S M, Khan U, Alifrangis C, et al. Anti Ma2-associated myeloradiculopathy: expanding the phenotype of anti-Ma2 associated paraneoplastic syndromes: Figure 1 [J]. J Neurol Neurosurg Psychiatry, 2012, 83(2): 232-233.
[18] Targonska B, Frost J, Prabhu S. Anti-Ma2-antibody-associated encephalitis: An atypical paraneoplastic neurologic syndrome [J]. SA J Radiol, 2018, 22(1): 1310. doi: 10.4102/sajr.v22i1.1310.
[19] Barnett M, Prosser J, Sutton I, et al. Paraneoplastic brain stem encephalitis in a woman with anti-Ma2 antibody [J]. J Neurol Neurosurg Psychiatry, 2001, 70(2): 222-225.
[20] Sahashi K, Sakai K, Mano K, et al. Anti-Ma2 antibody related paraneoplastic limbic/brain stem encephalitis associated with breast cancer expressing Ma1, Ma2, and Ma3 mRNAs [J]. J Neurol Neurosurg Psychiatry, 2003, 74(9): 1332-1325.
[21] Castle J, Sakonju A, Dalmau J, et al. Anti-Ma2-associated encephalitis with normal FDG-PET: a case of pseudo-Whipples disease [J]. Nat Clin Pract Neurol, 2006, 2(10): 566-572.
[22] Mrabet S, Ben Achour N, Kraoua I, et al. Anti-Ma2-encephalitis in a 2 year-old child: A newly diagnosed case and literature review [J]. Eur J Paediatr Neurol, 2015, 19(6): 737-742.
[23] Boniel S, Jeziorek A, Wozniak M, et al. Autoimmune neurological disorder with anti-Ma2/Ta antibodies in a pediatric patient [J]. Isr Med Assoc J, 2018, 20(10): 653-655.
[24] Josep D, Francesc G, Alberto V, et al. Clinical analysis of anti-Ma2-associated encephalitis [J]. Brain, 2004, 127(Pt 8): 1831-1844.
[25] 陈齐鸣. 副瘤性神经系统综合征的发病机制和临床诊断进展[J]. 重庆医科大学学报, 2017, 42(6): 676-681. CHEN Qiming. Advances in pathogenesis and clinical diagnosis of paranomatous nervous system syndrome[J]. Journal of Chongqing Medical University, 2017, 42(6): 676-681.
[26] Graus F, Cordon-Cardo C, Posner JB. Neuronal antinuclear antibody in sensory neuronopathy from lung cancer [J]. Neurology, 1985, 35(4): 538-543.
[27] Rosenfeld MR, Eichen JG, Wade DF, et al. Molecular and clinical diversity in paraneoplastic immunity to Ma proteins [J]. Ann Neurol, 2001, 50(3): 339-348.
[28] Vernino S, ONeill BP, Marks RS, et al. Immunomodulatory treatment trial for paraneoplastic neurological disorders [J]. Neuro Oncol, 2004, 6(1): 55-62.
[29] 宋晓南. 边缘性脑炎[J]. 中风与神经疾病杂志, 2015, 32(9): 773-778. SONG Xiaonan. Borderline encephalitis[J]. Journal of Apoplexy and Nervous Diseases, 2015, 32(9): 773-778.

多维度评价

Viewed

Full text

Abstract

Cited

Shared

Discussed