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Abstract Details

Retrospective Review of Small Fiber Neuropathy in the Pediatric Population
Neuromuscular and Clinical Neurophysiology (EMG)
Neuromuscular and Clinical Neurophysiology (EMG) Posters (7:00 AM-5:00 PM)
067
The objectives of this study are to investigate various etiologies, clinical presentations, and laboratory findings in 16 pediatric patients referred to the neuromuscular clinic for the evaluation of chronic pain or autonomic symptoms.
Small fiber neuropathy (SFN) continues to remain underdiagnosed, especially in the pediatric population. 
We retrospectively reviewed the medical records of 16 patients under the age of 18 years. 

Of the 16 patients studied, 69% were females with an average age at diagnosis of 14 years. The mean duration of symptoms prior to diagnosis was 3.3 years. All patients had a chronic course, with 56% having a non-length dependent presentation. The chief complaint was sensory symptoms in 81% and autonomic symptoms in 19% of patients. Overall, symptoms of autonomic involvement, including lightheadedness, dry eyes, dry mouth, hyper, or hypohidrosis were seen in 75% of patients. Of those studied, 25% had Postural Orthostatic Tachycardia Syndrome (POTS) on the autonomic testing.  

All 16 patients were clinically diagnosed with SFN based on history and examination. Nerve conduction studies were performed in 75% of patients and were normal. 81% of patients had a skin biopsy, which was abnormal in all cases. 

Diagnostic workup showed immune-mediated causes in 56% of patients and 37.5% of patients had elevated IgM autoantibodies against trisulfated disaccharide IdoA2S-GlcNS-6s (TS-HDS) antigen. The range of TS- HDS antibody in our patient population was 11,000- 26,000, with normal values being less than 10,000. Concurrent EBV infection was found in 44% and oral HSV infection in 19%. Other causes included metabolic syndrome, diabetes, and HPV vaccination, among others. 

SFN should be in the differential for any patient presenting with pain or autonomic involvement. Early diagnosis will help in establishing etiology and appropriate treatment.

Authors/Disclosures
Neha Gandhi, MD (Methodist Dallas Medical Center)
PRESENTER
Dr. Gandhi has nothing to disclose.
No disclosure on file
Eric L. Marin, MD Dr. Marin has nothing to disclose.
No disclosure on file
No disclosure on file
Jafar Kafaie, MD, PhD, FÂé¶¹´«Ã½Ó³»­ (Saint Louis University) Dr. Kafaie has nothing to disclose.