Marignier Romain, Chenevier Florian, Rogemond Veronique, Sillevis Smitt Peter, Renoux Christel, Cavillon Gaëlle, Androdias Geraldine, Vukusic Sandra, Graus Francesc, Honnorat Jérôme, Confavreux Christian
Service de Neurologie A and European Database for Multiple Sclerosis Coordinating Center, Hôpital Neurologique Pierre Wertheimer, Hospices Civils de Lyon, 69677 Lyon-Bron CEDEX, France.
Arch Neurol. 2010 May;67(5):627-30. doi: 10.1001/archneurol.2010.51.
To report the third case of subacute cerebellar ataxia associated with metabotropic glutamate receptor type 1 autoantibodies (mGluR1-Abs), an uncommon syndrome known to be part of the group of paraneoplastic cerebellar degeneration syndromes linked to antineuronal antibodies and previously reported in only 2 other patients with long-term remission of Hodgkin lymphoma, and to discuss the underlying immunopathogenesis.
Case report.
University hospital.
A 50-year-old woman admitted for acute severe isolated static and kinetic cerebellar syndrome. Magnetic resonance imaging of the brain showed diffuse abnormal hyperintensity in the whole cerebellum on fluid-attenuated inversion recovery and diffusion sequences.
Results of the biological workup were negative for general inflammation, vitamin deficiency, and bacterial and viral infections. Immunohistochemical analysis of the serum and cerebrospinal fluid of the patient demonstrated staining for Purkinje cell bodies and the molecular layer of the cerebellum. Finally, mGluR1-Abs were detected in serum and cerebrospinal fluid by a cell-based assay. Complete clinical examination, thoracoabdominal-pelvic computed tomography, and whole-body fludeoxyglucose F 18-positron emission tomography failed to show any underlying tumor, including Hodgkin lymphoma. The disease was stabilized after a course of intravenous immunoglobulins and continuous mycophenolate mofetil treatment during a follow-up of 40 months.
Cerebellitis associated with mGluR1-Abs should be considered in the differential diagnosis of patients with subacute cerebellar ataxia. This first case without any tumor found suggests a possible idiopathic autoimmune rather than a paraneoplastic mechanism. In consideration of this possible primitive autoimmune ataxia involving the directly pathogenic mGluR1-Abs, immunoactive therapy should be initiated as early as possible.
报告第三例与代谢型谷氨酸受体1自身抗体（mGluR1-Abs）相关的亚急性小脑共济失调病例，该综合征不常见，是与抗神经元抗体相关的副肿瘤性小脑变性综合征组的一部分，此前仅在另外2例霍奇金淋巴瘤长期缓解的患者中报道过，并讨论其潜在的免疫发病机制。
病例报告。
大学医院。
一名50岁女性因急性严重孤立性静态和动态小脑综合征入院。脑部磁共振成像在液体衰减反转恢复序列和扩散序列上显示整个小脑弥漫性异常高信号。
生物学检查结果显示一般炎症、维生素缺乏以及细菌和病毒感染均为阴性。对患者血清和脑脊液进行免疫组织化学分析，结果显示浦肯野细胞体和小脑分子层有染色。最后，通过基于细胞的检测在血清和脑脊液中检测到mGluR1-Abs。全面的临床检查、胸腹盆腔计算机断层扫描和全身氟脱氧葡萄糖F 18正电子发射断层扫描均未发现任何潜在肿瘤，包括霍奇金淋巴瘤。在40个月的随访期间，经过静脉注射免疫球蛋白和持续霉酚酸酯治疗后，病情稳定。
在亚急性小脑共济失调患者的鉴别诊断中应考虑与mGluR1-Abs相关的小脑炎。这例未发现任何肿瘤的首例病例提示可能是特发性自身免疫性而非副肿瘤性机制。考虑到这种可能涉及直接致病的mGluR1-Abs的原发性自身免疫性共济失调，应尽早开始免疫活性治疗。
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