Galli Jonathan R, Clardy Stacey L, Paz Soldán M Mateo
Department of Neurology, University of Utah, Salt Lake City, UT.
Neurologist. 2016 Nov;21(6):99-100. doi: 10.1097/NRL.0000000000000098.
Opsoclonus-myoclonus syndrome (OMS) may have a toxin induced, parainfectious, or paraneoplastic etiology. Several autoantibodies have been associated with adult-onset OMS, most commonly antineuronal nuclear antibody 2 (Ri), and it is most frequently associated with breast or small cell lung cancer. The nicotinic ganglionic acetylcholine receptor autoantibody (α3-AChR Ab) has not been described in association.
A 46-year-old woman was evaluated for symptoms of oscillopsia, tremor, gait imbalance, and mild cognitive deficits that began 6 weeks prior. Neurological examination demonstrated opsoclonus, myoclonus, and mild gait ataxia. Laboratory evaluation revealed an elevated α3-AChR Ab at 0.27 nmol/L (normal ≤0.02 nmol/L) with no other autoantibodies or infectious etiology detected. Thorough screening revealed no evidence of associated malignancy. Immunotherapy with weekly methylprednisolone led to significant improvement.
This first reported case of α3-AChR Ab positivity in the setting of adult-onset OMS expands the spectrum of associated autoantibodies. The mechanism of disease may be linked to cholinergic nuclei within the brainstem. This case suggests including α3-AChR Ab in the evaluation of adult-onset OMS, and highlights the importance of further understanding α3-AChR within the brain.
眼阵挛-肌阵挛综合征（OMS）可能由毒素诱导、感染后或肿瘤旁因素引起。几种自身抗体与成人发病的OMS相关，最常见的是抗神经元核抗体2（Ri），且它最常与乳腺癌或小细胞肺癌相关。尚未有烟碱型神经节乙酰胆碱受体自身抗体（α3-AChR Ab）相关的报道。
一名46岁女性因6周前开始出现的视振荡、震颤、步态不稳和轻度认知缺陷症状接受评估。神经系统检查显示有眼阵挛、肌阵挛和轻度步态共济失调。实验室检查发现α3-AChR Ab升高至0.27 nmol/L（正常≤0.02 nmol/L），未检测到其他自身抗体或感染病因。全面筛查未发现相关恶性肿瘤的证据。每周使用甲泼尼龙进行免疫治疗后症状显著改善。
这例首次报道的成人发病OMS患者α3-AChR Ab阳性病例扩展了相关自身抗体的范围。疾病机制可能与脑干内的胆碱能核有关。该病例提示在成人发病OMS的评估中应包括α3-AChR Ab检测，并强调了进一步了解脑内α3-AChR的重要性。
