Swayang Panda Sudha, Nalini Atchayaram, Preethish-Kumar Veeramani, Udupa Kaviraja, Yadav Ravi, Vengalil Seena, Reshma Sheikh Sultana, Polavarapu Kiran, Nashi Saraswati, Sathyaprabha T N, Treesa Thomas Priya, Maya Bhat, Jamuna Rajeshwaran, Mahadevan Anita, Netravathi M
Departments of Neurology (PSS, AN, VP-K, KU, RY, SV, SSR, KP, SN, MN), Neurophysiology (TNS), Psychiatric Social Work (PTT), Neuroimaging & Interventional Neuroradiology (NIIR) (BM), Neuropsychology (RJ), and Neuropathology (AM), National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India.
Neurol Clin Pract. 2021 Jun;11(3):e267-e276. doi: 10.1212/CPJ.0000000000000978.
Morvan syndrome is characterized by central, autonomic, and peripheral hyperexcitability due to contactin-associated protein 2 (CASPR2) antibody. Our objective was to study the clinical spectrum, electrophysiologic, autonomic, polysomnographic, and neuropsychological profile in patients with CASPR2-related Morvan syndrome.
Serum and CSF samples that were CASPR2 antibody positive from 2016 to 2019 were assessed. Among them, patients with Morvan syndrome diagnosed based on clinical and electrophysiologic basis were included.
Fourteen (M:F = 10:4) patients with Morvan syndrome were included with age at onset of 37.1 ± 17.5 years. The clinical features were muscle twitching (12), insomnia (12), pain (11), paresthesias (9), hyperhidrosis (7), hypersalivation (6), double incontinence (3), spastic speech (2), dysphagia (2), behavioral disturbances (2), seizures (1), and cold intolerance (1). Neurologic examination revealed myokymia (12), hyperactive tendon reflexes (10), and tremor (6). EMG revealed neuromyotonia (12) and increased spontaneous activity (7). Autonomic function tests conducted in 8 patients revealed definite autonomic dysfunction (4), orthostatic hypotension (2), early dysfunction (1), and postural orthostatic tachycardia syndrome (1). Polysomnography findings in 6 patients revealed insomnia (3), absence of deep sleep (1), high-frequency beta activity (1), REM behavior disorder (1), and periodic leg movements (1). Neuropsychological evaluation showed subtle involvement of the left frontal and temporal lobe. Malignancy workup was negative. All patients were treated with steroids. There was complete neurologic resolution in follow-up with persistent neuropathic pain in 5 patients.
This study has contributed to the growing knowledge on CASPR2-related Morvan syndrome. It is important for an increased awareness and early recognition as it is potentially treatable by immunotherapy.
莫旺综合征的特征是由于接触蛋白相关蛋白2（CASPR2）抗体导致中枢、自主神经和周围神经兴奋性增高。我们的目的是研究与CASPR2相关的莫旺综合征患者的临床谱、电生理、自主神经、多导睡眠图和神经心理学特征。
对2016年至2019年CASPR2抗体阳性的血清和脑脊液样本进行评估。其中，纳入根据临床和电生理依据诊断为莫旺综合征的患者。
纳入14例（男:女 = 10:4）莫旺综合征患者，发病年龄为37.1±17.5岁。临床特征包括肌肉抽搐（12例）、失眠（12例）、疼痛（11例）、感觉异常（9例）、多汗（7例）、流涎过多（6例）、大小便失禁（3例）、痉挛性言语（2例）、吞咽困难（2例）、行为障碍（2例）、癫痫发作（1例）和不耐寒（1例）。神经系统检查发现肌束震颤（12例）、腱反射亢进（10例）和震颤（6例）。肌电图显示神经肌强直（12例）和自发活动增加（7例）。对8例患者进行的自主神经功能测试显示明确的自主神经功能障碍（4例）、直立性低血压（2例）、早期功能障碍（1例）和姿势性直立性心动过速综合征（1例）。6例患者的多导睡眠图结果显示失眠（3例）、无深度睡眠（1例）、高频β活动（1例）、快速眼动睡眠行为障碍（1例）和周期性腿部运动（1例）。神经心理学评估显示左额叶和颞叶有轻微受累。恶性肿瘤检查结果为阴性。所有患者均接受了类固醇治疗。随访时神经功能完全恢复，5例患者仍有持续性神经性疼痛。
本研究有助于增加对与CASPR2相关的莫旺综合征的认识。提高认识和早期识别很重要，因为它可能通过免疫疗法治疗。
