Small Nerve Fiber Dysfunction in Children and Adolescents-Dr. McGowan Presentation

Dr. McGowan Presentation

Pdf Summary

The document focuses on small fiber neuropathy (SFN) in children, presenting an overview of its anatomy, clinical manifestations, potential causes, and diagnostic tools. Presented by Dr. Bridget McGowan from Ann & Robert H. Lurie Children’s Hospital of Chicago, the session highlights that small fiber neuropathy is often overlooked since it doesn’t show in typical nerve conduction studies (NCS), prompting the need for more innovative detection methods like skin biopsies and sweat tests.<br /><br />The document includes a case study of a 17-year-old female with symptoms such as back and neck pain, tingling, and numbness in extremities. Despite extensive medical evaluations, including MRIs and a variety of specialist consultations, the results were inconclusive. A sweat test revealed a 45.4% anhidrosis, suggesting autonomic dysfunction linked to SFN, later confirmed by the diagnosis of celiac disease via duodenal biopsy.<br /><br />The neurophysiology of the nerve fibers is explained, categorizing them by function, clinical symptoms, and related pain types like sharp, burning, or tingling sensations that are worsened by certain activities and better at rest. Specifically, the document discusses how genetic mutations (e.g., SCN9A, SCN10A, and SCN11A) and autoimmune diseases (e.g., lupus, celiac disease) can cause SFN. A spectrum of other potential causes, including metabolic diseases (diabetes), inflammatory diseases, infections, toxins, and vitamin deficiencies, are also documented.<br /><br />The difficulties in diagnosing SFN in children are emphasized, particularly due to challenges in symptom description, limited diagnostic standards, and a lack of awareness within the pediatric community. The need for better understanding and diagnostic advances in pediatric SFN is highlighted through various research citations.

Keywords

small fiber neuropathy

children

diagnostic tools

Dr. Bridget McGowan

autonomic dysfunction

celiac disease

genetic mutations

autoimmune diseases

pediatric neurology

innovative detection methods