Department of Neurology, Lady Hardinge Medical College and Smt. SK Hospital, New Delhi, India.
Department of Neurology, Dr. Ram Manohar Lohia Institute of Medical Sciences, Lucknow, India.
J Neuroimmunol. 2020 Oct 15;347:577348. doi: 10.1016/j.jneuroim.2020.577348. Epub 2020 Jul 30.
Autoimmune encephalitis (AE) is being increasingly recognized as a cause of new-onset movement disorders. Movement disorders in AE are diverse and range from hyperkinetic conditions such as oromandibular dyskinesias, tremors and chorea to hypokinetic ones such as bradykinesia and parkinsonism. Stereotypies have been described in association with anti-NMDAR encephalitis. Similarly, sleep dysfunction is an underrecognized feature in many AE subtypes, prominently anti-IgLON5 although the correlation of phenotype of sleep dysfunction with a particular antibody subtype in AE is unclear. Despite the recognition of both these features as part of an overreaching spectrum in any patient with AE, seldom are they the sole presenting manifestations. Additionally, the challenge is further compounded in a patient who has seronegative AE since neither sleep disturbances nor stereotypies have been well characterized with this condition yet, and the diagnosis is conditional to exhausting a list of ancillary supportive features. In this brief communication, we describe the case of a young man who presented with hypersomnolence and an unusual focal nose-pinching stereotypy of subacute onset who lacked the presence of other typical clinical characteristics such as cognitive/memory impairment and seizures and had negative autoimmune antibodies but responded to immune therapy dramatically. We propose that the presence of de novo hypersomnolence and stereotypy should inform a potential diagnosis of AE.
自身免疫性脑炎 (AE) 作为一种新发病症的运动障碍的病因,越来越受到重视。AE 中的运动障碍多种多样,从口面运动障碍、震颤和舞蹈病等多动性疾病到运动徐缓、帕金森病等少动性疾病。抗 NMDAR 脑炎与刻板动作有关。同样,睡眠功能障碍也是许多 AE 亚型中未被充分认识的特征,尤其是抗 IgLON5,但 AE 中睡眠功能障碍的表型与特定抗体亚型的相关性尚不清楚。尽管在任何患有 AE 的患者中,这两种特征都被认为是一个广泛的表现,但它们很少是唯一的表现。此外,对于血清阴性 AE 患者来说,挑战更加复杂,因为睡眠障碍和刻板动作尚未在这种情况下得到很好的描述,并且该诊断依赖于排除一系列辅助支持特征。在这个简要的交流中,我们描述了一位年轻男性的病例,他表现为嗜睡和亚急性发作的不寻常的鼻部刻板动作,但缺乏其他典型的临床特征,如认知/记忆障碍和癫痫发作,自身免疫抗体阴性,但对免疫治疗反应显著。我们提出,新发的嗜睡和刻板动作的存在应该提示潜在的 AE 诊断。