Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Muscle Nerve. 2020 Jun;61(6):791-796. doi: 10.1002/mus.26857. Epub 2020 Mar 17.
Small-fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology.
The data of four children/adolescents presenting with erythromelalgia and neuropathic pain from 2014 to 2019 were collected retrospectively from the electronic database of a pediatric medical center.
Results of clinical and/or electrophysiological evaluation excluded large nerve fiber involvement. Skin biopsy results confirmed small-fiber neuropathy. According to genetic analysis, two patients were heterozygous and one was homozygous for mutations in the familial Mediterranean fever (MEFV) gene. Behcet disease was diagnosed in the fourth patient. Treatment with anti-interleukin-1 agents, intravenous immunoglobulin, and glucocorticoids was beneficial.
The diagnosis of small-fiber neuropathy should be considered in children/adolescents presenting with erythromelalgia. A thorough investigation is required to reveal the underlying disorder. Clinicians should be alert to the peripheral neurological manifestations of autoinflammatory syndromes because effective treatments are available.
小儿小纤维神经病少见，它与几种自身免疫性疾病相关，但尚无自身炎症性病因的报道。
我们回顾性地从一家儿科医学中心的电子数据库中收集了 2014 年至 2019 年间 4 名出现红斑性肢痛和神经病理性疼痛的儿童/青少年的数据。
临床和/或电生理评估结果排除了大纤维神经受累。皮肤活检结果证实为小纤维神经病。根据基因分析，2 名患者为常染色体显性遗传家族性地中海热（MEFV）基因突变杂合子，1 名患者为纯合子。第 4 名患者被诊断为贝赫切特病。抗白细胞介素 1 制剂、静脉注射免疫球蛋白和糖皮质激素治疗有效。
出现红斑性肢痛的儿童/青少年应考虑小纤维神经病的诊断。需要进行全面的检查以发现潜在的疾病。临床医生应警惕自身炎症性综合征的周围神经表现，因为有有效的治疗方法。
