Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.

Details

Serval ID
serval:BIB_F2A151C92A27
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Acute monophasic erythromelalgia pain in five children diagnosed as small-fiber neuropathy.
Journal
European journal of paediatric neurology
Author(s)
Faignart N., Nguyen K., Soroken C., Poloni C., Downs H.M., Laubscher B., Korff C., Oaklander A.L., Roulet Perez E.
ISSN
1532-2130 (Electronic)
ISSN-L
1090-3798
Publication state
Published
Issued date
09/2020
Peer-reviewed
Oui
Volume
28
Pages
198-204
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
The small-fiber polyneuropathies (SFN) are a class of diseases in which the small thin myelinated (Aδ) and/or unmyelinated (C) fibers within peripheral nerves malfunction and can degenerate. SFN usually begins in the farthest, most-vulnerable axons, so distal neuropathic pain and symptoms from microvascular dysregulation are common. It is well known in adults, e.g. from diabetes, human immunodeficiency virus, or neurotoxins, but considered extremely rare in children, linked mostly with pathogenic genetic variants in voltage-gated sodium channels. However, increasing evidence suggests that pediatric SFN is not rare, and that dysimmunity is the most common cause. Because most pediatric neurologists are unfamiliar with SFN, we report the diagnosis and management of 5 Swiss children, aged 6-11y, who presented with severe paroxysmal burning pain in the hands and feet temporarily relieved by cooling-the erythromelalgia presentation. Medical evaluations revealed autoimmune diseases in 3 families and 3/5 had preceding or concomitant infections. The standard diagnostic test (PGP9.5-immunolabeled lower-leg skin biopsy) confirmed SFN diagnoses in 3/4, and autonomic function testing (AFT) was abnormal in 2/3. Blood testing for etiology was unrevealing, including genetic testing in 3. Paracetamol and ibuprofen were ineffective. Two children responded to gabapentin plus mexiletine, one to carbamazepine, two to mexiletine plus immunotherapy (methylprednisolone/IVIg). All recovered within 6 months, remaining well for years. These monophasic tempos and therapeutic responses are most consistent with acute post-infectious immune-mediated causality akin to Guillain-Barré large-fiber polyneuropathy. Skin biopsy and AFT for SFN, neuropathic-pain medications and immunotherapy should be considered for acute sporadic pediatric erythromelalgia.
Keywords
Acute, Child, Dysimmune, Erythromelalgia, Monophasic, Small-fiber neuropathy
Pubmed
Web of science
Create date
13/08/2020 9:28
Last modification date
22/01/2021 7:26
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