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Abstract Details

A Case of Sporadic Erythromelalgia Presenting with Small Fiber Neuropathy
General Neurology
P1 - Poster Session 1 (5:30 PM-6:30 PM)
4-058
Discuss a rare case of Erythromelalgia (EM) in a young male

EM is a disorder of small nerve fibers that leads to painful flushing and burning paresthesias of distal extremities and is typically associated with heat or physical activity and relieved with cooling measures. It is typically familial and related to mutations in the SCN9A gene. A mutation has not been identified in sporadic cases, and no curative therapy exists to date. A 31-year-old male with small fiber neuropathy for ten years presented with painful erythema and a sensation of warmth and burning affecting the chest, ears and feet, that has progressed to his hands over the past three years. Warm environments, exercise, or heat precipitate episodes. Additionally, episodes are associated with positional orientation of his upper extremities that is relieved with arm raising. Furthermore, his episodes affect isolated patches of skin on his knees and trunk. His symptoms improve with cooling and raising his arms above his head.


Case Report
Routine nerve conduction and needle EMG studies are normal. Nerve biopsy demonstrates small fiber neuropathy, a finding frequently associated with EM. Cardiovascular evaluation reveals significant postural orthostatic dysfunction.
This patient’s presentation is not associated with any relevant family history and secondary causes of small nerve damage or myeloproliferative disorders have been negative to date. In contrast to the typical presentation, his isolated, proximal skin involvement is a rare finding. He has found success in treating his discomfort by using Tegretol and lidocaine. Interestingly, he had limited response to mexiletine suggesting a specific mutation on his Nav1.7 sodium channel, possibly resulting in his noteworthy response to Tegretol. To date, there continues to be no clear-cut understanding of the pathophysiology of EM and further research is needed to link channel mutations with treatments, and their association with underlying small fiber neuropathies.
Authors/Disclosures
Pavan Patel, DO
PRESENTER
Dr. Patel has nothing to disclose.
Christopher R. Edwards, DO (Park Nicollet Neurology) Dr. Edwards has nothing to disclose.
Yan Zhang, MD, PhD (Klein Professional Bldg) Dr. Zhang has nothing to disclose.