Unicorns and Zebras: Unusual Pediatric NM Cases-Session recording

Video Transcription

Video Summary

In this presentation, Dr. Matsula Thangaraj and Dr. Vila Sakitipakorn discussed complex pediatric neuromuscular cases, emphasizing the challenges in diagnosing and treating rare immune-mediated myopathies and neuropathies. Dr. Thangaraj presented three cases focusing on pediatric myopathies with atypical presentations. These cases highlighted the difficulty in reaching a diagnosis despite advanced antibody testing and imaging, as well as the varied response to treatment, emphasizing the complexity and unpredictability of these conditions. The patients discussed had significant muscle wasting, high enzyme levels, and were eventually diagnosed with immune-mediated myopathies. However, treatments often did not lead to expected recovery due to underlying conditions and healthcare access issues.<br /><br />Dr. Sakitipakorn presented two cases involving sensory neuropathies with unusual antibody associations, including anti-FGFR3 and Gulf War Illness antibodies. Both cases presented diagnostic challenges due to overlapping symptoms and atypical test results. The first case centered on a 15-year-old girl who developed severe neuropathic pain and was found to have both sensory and motor nerve damage. Her condition improved following treatment with IVIG and steroids. The second case involved a 12-year-old boy whose symptoms did not fully align with his genetic findings, complicating his diagnosis and subsequent treatment.<br /><br />Overall, the session highlighted the need for careful diagnostic processes, interdisciplinary collaboration, and consideration of both genetic and autoimmune factors in pediatric neuromuscular disorders. The importance of ongoing research and the establishment of standardized care protocols was emphasized to better manage these rare and challenging conditions.

Keywords

pediatric neuromuscular disorders

immune-mediated myopathies

neuropathies

diagnostic challenges

antibody testing

treatment response

muscle wasting

sensory neuropathies

interdisciplinary collaboration

standardized care protocols