Evidence of autoimmune etiology in children with small fiber neuropathy
- 1Florida State University College of Medicine , , ,
- 2Department of Pediatrics, Cardinal Glennon Children’s Hospital/St. Louis University , , ,
- 3Center for Digestive Health and Nutrition, Arnold Palmer Hospital for Children , , ,
Abstract
Objective: Small fiber neuropathy (SFN) is becoming increasingly recognized as a cause of autonomic dysfunction, sensory disturbances, and neuropathic pain. While SFN was previously considered predominantly idiopathic, cases of autoimmune SFN are now well described in adults but remain underexplored in children.
Methods: In this retrospective chart review, we identified pediatric patients diagnosed with SFN of suspected autoimmune etiology. SFN was diagnosed based on epidermal nerve fiber density (ENFD) and/or sweat gland nerve fiber density (SGNFD) values from skin biopsy and/or quantitative sudomotor axon reflex testing (QSART). Autoantibodies were assessed using the Mayo Clinic Dysautonomia Panel and the Washington University in St. Louis (WUSTL) Sensory Neuropathy Panel.
Results: Twenty patients with SFN of suspected autoimmune etiology were identified. Seventy-five percent were females, with mean ages at symptom onset and diagnosis of 11.158 and 14.038 years, respectively. Presenting symptoms included gastrointestinal (GI) symptoms (60%, n = 12), neurological/sensory (40%, n = 8), and postural orthostatic tachycardic syndrome (POTS) (40%, n = 8); 35% ( n = 7) presented with a combination of symptoms. IgM TS-HDS antibodies were identified in 45% ( n = 9), IgG FGFR3 antibodies in 25% ( n = 5), both antibodies in 5% ( n = 1), and ganglionic acetylcholine receptor antibodies in 5% ( n = 1). Comorbid autoimmune conditions included Crohn’s disease ( n = 1), and Sjögren’s syndrome ( n = 3). Abnormal findings were recorded on QSART in 5 of 6 patients and GI motility studies in 10 of 11 patients. Twelve patients received IVIG therapy for more than 3 months, of whom 10 (83%) reported improvement in symptom burden or complete resolution of symptoms.
Conclusion: Pediatric SFN typically presents with a combination of POTS, neurologic, and GI symptoms. Our study demonstrates a potential autoimmune etiology, supported by the presence of identifiable autoantibodies and observed clinical improvement after a minimum of 3 months of IVIG therapy.
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BibTeX
@article{rook2026evidence,
title = {{Evidence of autoimmune etiology in children with small fiber neuropathy}},
author = {Morgan Rook and Fredrick Perry and Aalif Zaheer and Shaista Safder and Vikram Prakash},
journal = {Frontiers in neurology},
year = {2026},
month = oct,
doi = {10.3389/fneur.2026.1927782},
url = {https://europepmc.org/article/PMC/PMC13668737},
note = {CC BY},
}
RIS
TY - JOUR
TI - Evidence of autoimmune etiology in children with small fiber neuropathy
AU - Morgan Rook
AU - Fredrick Perry
AU - Aalif Zaheer
AU - Shaista Safder
AU - Vikram Prakash
PY - 2026
DA - 2026/10/01
JO - Frontiers in neurology
DO - 10.3389/fneur.2026.1927782
UR - https://europepmc.org/article/PMC/PMC13668737
AB - Objective: Small fiber neuropathy (SFN) is becoming increasingly recognized as a cause of autonomic dysfunction, sensory disturbances, and neuropathic pain. While SFN was previously considered predominantly idiopathic, cases of autoimmune SFN are now well described in adults but remain underexplored in children. Methods: In this retrospective chart review, we identified pediatric patients diagnosed with SFN of suspected autoimmune etiology. SFN was diagnosed based on epidermal nerve fiber density (ENFD) and/or sweat gland nerve fiber density (SGNFD) values from skin biopsy and/or quantitative sudomotor axon reflex testing (QSART). Autoantibodies were assessed using the Mayo Clinic Dysautonomia Panel and the Washington University in St. Louis (WUSTL) Sensory Neuropathy Panel. Results: Twenty patients with SFN of suspected autoimmune etiology were identified. Seventy-five percent were females, with mean ages at symptom onset and diagnosis of 11.158 and 14.038 years, respectively. Presenting symptoms included gastrointestinal (GI) symptoms (60%, n = 12), neurological/sensory (40%, n = 8), and postural orthostatic tachycardic syndrome (POTS) (40%, n = 8); 35% ( n = 7) presented with a combination of symptoms. IgM TS-HDS antibodies were identified in 45% ( n = 9), IgG FGFR3 antibodies in 25% ( n = 5), both antibodies in 5% ( n = 1), and ganglionic acetylcholine receptor antibodies in 5% ( n = 1). Comorbid autoimmune conditions included Crohn’s disease ( n = 1), and Sjögren’s syndrome ( n = 3). Abnormal findings were recorded on QSART in 5 of 6 patients and GI motility studies in 10 of 11 patients. Twelve patients received IVIG therapy for more than 3 months, of whom 10 (83%) reported improvement in symptom burden or complete resolution of symptoms. Conclusion: Pediatric SFN typically presents with a combination of POTS, neurologic, and GI symptoms. Our study demonstrates a potential autoimmune etiology, supported by the presence of identifiable autoantibodies and observed clinical improvement after a minimum of 3 months of IVIG therapy.
SN - 1664-2295
ER -