Related Experiment Video
Updated: Dec 27, 2025

Targeting Alpha Synuclein Aggregates in Cutaneous Peripheral Nerve Fibers by Free-floating Immunofluorescence Assay
Published on: June 25, 2019
Small-fiber neuropathy associated with autoinflammatory syndromes in children and adolescents
Iris Shinkarevsky Fleitman1, Yoram Nevo1,2, Liora Harel2,3
1Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
Introduction:
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/adolescents presenting with erythromelalgia and neuropathic pain from 2014 to 2019 were collected retrospectively from the electronic database of a pediatric medical center.
Results:
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.
Discussion:
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.
Related Concept Videos
Autoimmune Disorders
Concept and Mechanism of Autoimmune Diseases
The immune...
Disorders of the Autonomic Nervous System
Raynaud's disease, also known as Raynaud's...
Peripheral Artery Disease I: Introduction
Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Nephrotic Syndrome I : Introduction

