Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.
Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.
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DOI：
10.1016/j.ejpn.2020.06.004
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发表时间：
2020-09
影响因子：
3.1
通讯作者：
Perez, Eliane Roulet
中科院分区：
文献类型：
--
作者：
Faignart, Nicole;Nguyen, Karine;Soroken, Cindy;Poloni, Claudia;Downs, Heather M.;Laubscher, Bernard;Korff, Christian;Oaklander, Anne Louise;Perez, Eliane Roulet
小纤维多发性神经病（SFN）是一类周围神经内细小的有髓（Aδ）和/或无髓（C）纤维发生功能障碍并可变性的疾病。SFN通常始于最远、最脆弱的轴突，因此远端神经性疼痛和微血管失调的症状很常见。它在成人中是众所周知的，例如糖尿病，人类免疫缺陷病毒或神经毒素，但在儿童中被认为是极其罕见的，主要与电压门控钠通道中的致病性遗传变异有关。然而，越来越多的证据表明，小儿SFN并不罕见，免疫障碍是最常见的原因。由于大多数儿科神经科医生对SFN不熟悉，我们报告了5名6- 11岁的瑞士儿童的诊断和治疗，他们表现为手足严重阵发性烧灼痛，通过冷却暂时缓解-红斑性肢痛症表现。医学评估显示3个家族中有自身免疫性疾病，3/5人有既往或合并感染。标准诊断试验（PGP9.5-免疫标记小腿皮肤活检）证实了3/4的SFN诊断，2/3的自主神经功能测试（AFT）异常。血液检测的病因是不明确的，包括3例基因检测。扑热息痛和布洛芬无效。两名儿童对加巴喷丁加美西律有反应，一名对卡马西平有反应，两名对美西律加免疫治疗（甲泼尼龙/IVIg）有反应。所有人都在6个月内康复，多年来一直保持良好状态。这些时相节奏和治疗反应与急性感染后免疫介导的因果关系最一致，类似于格林-巴利大纤维多发性神经病。对于急性散发性小儿红斑性肢痛症，应考虑皮肤活检和AFT的SFN，神经病理性疼痛药物和免疫治疗。
The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves malfunction and can degenerate. SFN usually begins in the farthest, most-vulnerable axons, so distal neuropathic pain and symptoms from micro-vascular dysregulation are common. It is well known in adults, e.g. from diabetes, human immunodeficiency virus, or neurotoxins, but considered extremely rare in children, linked mostly with pathogenic genetic variants in voltage-gated sodium channels. However, increasing evidence suggests that pediatric SFN is not rare, and that dysimmunity is the most common cause. Because most pediatric neurologists are unfamiliar with SFN, we report the diagnosis and management of 5 Swiss children, aged 6–11y, who presented with severe paroxysmal burning pain in the hands and feet temporarily relieved by cooling—the erythromelalgia presentation. Medical evaluations revealed autoimmune diseases in 3 families and 3/5 had preceding or concomitant infections. The standard diagnostic test (PGP9.5-immunolabeled lower-leg skin biopsy) confirmed SFN diagnoses in 3/4, and autonomic function testing (AFT) was abnormal in 2/3. Blood testing for etiology was unrevealing, including genetic testing in 3. Paracetamol and ibuprofen were ineffective. Two children responded to gabapentin plus mexiletine, one to carbamazepine, two to mexiletine plus immunotherapy (methylprednisolone/IVIg). All recovered within 6 months, remaining well for years. These monophasic tempos and therapeutic responses are most consistent with acute post-infectious immune-mediated causality akin to Guillain-Barré large-fiber polyneuropathy. Skin biopsy and AFT for SFN, neuropathic-pain medications and immunotherapy should be considered for acute sporadic pediatric erythromelalgia.
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通讯作者：
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