Unicorns and Zebras: Unusual Pediatric NM Cases-Dr. Vilaisaktipakorn Presentation

Dr. Vilaisaktipakorn Presentation

Pdf Summary

The document provides detailed case studies highlighting instances of neuropathy in pediatric patients, led by Dr. Pitchamol Vilaisaktipakorn, a pediatric neuromuscular fellow. <br /><br />Case 1 discusses a 15-year-old girl with juvenile myoclonic epilepsy who presented with back pain and sensory issues, progressing into severe neuropathic pain. Diagnostic tests including NCS/EMG indicated diffuse axonal sensory polyneuropathy, and she tested positive for TS-HDS antibodies, suggesting an immune-mediated neuropathy. Treatment with IVIG and methylprednisolone showed gradual improvement, although pain persisted. Over a year, her nerve condition improved, and TS-HDS antibodies became non-detectable. TS-HDS autoantibodies are noted as potential biomarkers for immune-mediated neuropathy, though their value in guiding treatment remains limited.<br /><br />Case 2 involves a 12-year-old boy with ADHD and gastrointestinal pain, who experienced worsening leg pain and paresthesia. NCS/EMG revealed sensorimotor polyneuropathy, asymmetrical with axonal emphasis. He tested positive for FGFR-3 antibodies and had a genetic finding of PMP22 deletion. His pain symptoms showed partial response to IVIG treatment. FGFR-3 antibodies, like TS-HDS, are linked to immune-mediated neuropathies, although their clinical implications are not fully understood.<br /><br />The takeaways highlight the importance of clinical evaluation in diagnosis, the potential role of autoantibodies like TS-HDS and FGFR-3 in neuropathy, and the complexities in treatment responses, particularly regarding IVIG. Additionally, consideration of hereditary factors in unexplained pediatric neuropathy cases is advised.<br /><br />The document also emphasizes the contribution of patients and families to research and the need for ongoing feedback to improve medical meetings and presentations. Lastly, logistical details regarding credit claims for session attendance at the AANEM meeting are provided.

Keywords

pediatric neuropathy

Dr. Pitchamol Vilaisaktipakorn

case studies

immune-mediated neuropathy

TS-HDS antibodies

FGFR-3 antibodies

IVIG treatment

sensorimotor polyneuropathy

genetic factors

AANEM meeting