Paediatric Neurology, Great Ormond Street Hospital for Children, London, UK.
Paediatric Neurology, Birmingham Children's Hospital, Birmingham, UK.
Dev Med Child Neurol. 2019 Nov;61(11):1344-1347. doi: 10.1111/dmcn.14179. Epub 2019 Feb 6.
Acquired neuromyotonia is a form of peripheral nerve hyperexcitability. In adults, pathogenic antibodies that target the extracellular domains of leucine-rich glioma-inactivated protein 1 (LGI1) and contactin-associated protein-like 2 (CASPR2) have been reported. We describe three paediatric patients with acquired neuromyotonia and CASPR2 and LGI1 serum antibodies. They all presented with acute-onset myokymia and pain in the lower limbs; one patient also had muscle weakness. Electromyography was suggestive of peripheral nerve hyperexcitability. Two patients improved without immunotherapy; one treated patient remained immunotherapy-dependent. Although not fatal, acquired paediatric neuromyotonia can be disabling. It is amenable to symptomatic treatment or may undergo spontaneous recovery. More severe cases may require rational immunotherapy. WHAT THIS PAPER ADDS: The symptoms of neuromyotonia may resolve spontaneously or may require sodium channel blockers. Patients with debilitating symptoms who are refractory to symptomatic therapy may require immunotherapy.
获得性肌强直是一种周围神经兴奋性过高的疾病。在成人中，已报道针对富含亮氨酸胶质瘤失活蛋白 1（LGI1）和接触蛋白相关蛋白样 2（CASPR2）细胞外结构域的致病性抗体。我们描述了 3 例伴有获得性肌强直和 CASPR2 及 LGI1 血清抗体的儿科患者。他们均表现为急性发作性肌束震颤和下肢疼痛；1 例患者还存在肌无力。肌电图提示周围神经兴奋性过高。2 例患者未经免疫治疗即改善；1 例接受治疗的患者仍依赖免疫治疗。获得性儿科肌强直虽然不致命，但可能导致残疾。它可对症治疗，也可能自发恢复。更严重的病例可能需要合理的免疫治疗。本文增加的内容：肌强直的症状可能会自发缓解，也可能需要钠通道阻滞剂。对症状治疗无反应且症状严重的患者可能需要免疫治疗。
