Small fiber neuropathy associated with autoinflammatory syndromes in children.

Small fiber neuropathy is rare in children. It has been associated with several autoimmune disorders, but there are no reports of an autoinflammatory etiology. Methods The data of four children presenting with erythromelalgia and neuropathic pain in 2014-2019 were collected retrospectively from the electronic database of a pediatric medical center.Clinical and/or electrophysiologic evaluation excluded large nerve fiber involvement. Skin biopsies confirmed small fiber neuropathy. On genetic analysis, 2 children were heterozygous and one was homozygous for mutations in the familial Mediterranean fever (MEFV) gene. The fourth child was diagnosed with Behcet disease. Treatment with anti-interleukin-1 agents, intravenous immunoglobulin, and glucocorticoids was beneficial.The diagnosis of small fiber neuropathy should be considered in children presenting with erythromelalgia. A thorough investigation is needed to reveal the underlying disorder. Clinicians should be alert to the peripheral neurological manifestations of autoinflammatory syndromes because effective treatments are available. This article is protected by copyright. All rights reserved.