Inflammatory neuropathies with pathogenic involvement of the nodes of Ranvier through autoantibodies have been increasingly characterized in the past years. The so-called anti-pan-NF-associated neuropathies caused by the simultaneous existence of anti-Neurofascin-186/-140 and -155-antibodies are extremely rare and cause life-threatening symptoms. Therapeutic strategies are needed as symptoms may be life-threatening and may not respond to standard first-line CIDP treatment. We report a case of a 52-year-old male with a rare anti-pan-neurofascin (NF) (-155, -186/-140)-associated neuropathy. The initial presentation was subacute with mild paresthesia leading to a fulminant “locked-in”-like syndrome requiring mechanical ventilation within the first eight weeks despite treatment with intravenous immunoglobulins. Nerve conduction studies revealed non-excitable nerves with acute spontaneous activity in electromyography. High titers of anti-Neurofascin-155, −186/−140-antibodies were detected in serum and cerebrospinal fluid. A combination of aggressive immunotherapy consisting of intravenous immunoglobulins, plasma exchange, rituximab and bortezomib resulted in clinical improvement with ambulation and non-detectable anti-neurofascin-antibodies within the following 3 months. The follow-up nerve conduction studies showed normalized amplitudes of the peripheral nerves with signs of reinnervation in electromyography. We conclude that an early aggressive immunotherapy consisting of a combination of rituximab and bortezomib could be considered as a therapeutic option for anti-pan-NF-associated neuropathies.

中文翻译：

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对利妥昔单抗和硼替佐米有反应的暴发性抗泛神经筋膜蛋白相关神经病的报告

在过去几年中，炎症性神经病通过自身抗体对 Ranvier 淋巴结的致病性参与越来越多。由抗Neurofascin-186/-140和-155-抗体同时存在引起的所谓anti-pan-NF相关神经病极为罕见，并会导致危及生命的症状。需要治疗策略，因为症状可能会危及生命，并且可能对标准的一线 CIDP 治疗没有反应。我们报告一例 52 岁男性患有罕见的抗泛神经筋蛋白 (NF) (-155, -186/-140) 相关的神经病变。最初的表现是亚急性的，伴有轻微的感觉异常，导致在前 8 周内出现需要机械通气的暴发性“闭锁”样综合征，尽管接受了静脉注射免疫球蛋白治疗。神经传导研究显示在肌电图中具有急性自发活动的不可兴奋神经。在血清和脑脊液中检测到高滴度的抗神经肌成束蛋白 155、-186/-140 抗体。由静脉注射免疫球蛋白、血浆置换、利妥昔单抗和硼替佐米组成的积极免疫疗法的组合导致临床改善，在接下来的 3 个月内，可行走和不可检测的抗神经肌成束蛋白抗体。后续神经传导研究显示周围神经的振幅正常化，肌电图显示有神经再支配的迹象。我们得出结论，由利妥昔单抗和硼替佐米组合组成的早期侵袭性免疫疗法可被视为抗泛 NF 相关神经病的治疗选择。