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

Dr. Thangarajh Presentation

Pdf Summary

The document is a detailed presentation by Dr. Mathula Thangarajh on "Unicorns and Zebras," focusing on case studies of three African-American adolescents with unique and challenging medical conditions, specifically myopathies. It includes financial disclosures and an outline of the presentations, addressing barriers and opportunities in advancing care and research.<br /><br />Patient 1, ZW, is a 15-year-old with fatigue and muscle weakness over four months, rapidly progressing to the inability to walk. His medical history includes end-stage renal disease and a transplant. Various differential diagnoses were considered, including myosin-losing myopathy and genetic causes. The final diagnosis suggests an immune-mediated myopathy due to Anti-Ro antibodies.<br /><br />Patient 2, PO, is a 13-year-old girl under assessment for a suspected brachial plexus injury after shoulder trauma. MRI and lab findings indicated severe muscle atrophy and potential Parsonage-Turner syndrome. Her diagnosis concluded with immune-mediated myopathy due to Anti-SRP 54 and anti-PM_Scl75 antibodies.<br /><br />Patient 3, CM, a 15-year-old boy, presented with a waddling gait post-COVID infection. Lab results and muscle biopsies led to a diagnosis of immune-mediated myopathy associated with a positive anti-SRP-54 antibody. <br /><br />The document discusses commonalities among the patients, such as acute presentations and difficulty with treatments. Challenges included the rarity of these cases, a lack of standardized protocols, and barriers in accessing specialized care. Suggested solutions involve establishing shared clinics and creating a national registry for muscle biopsies. <br /><br />The presentation concludes with an encouragement for feedback via the AANEM app and guidance on claiming session attendance credits.

Keywords

Unicorns and Zebras

myopathies

immune-mediated myopathy

Anti-Ro antibodies

Anti-SRP 54 antibody

Parsonage-Turner syndrome

African-American adolescents

medical case studies

muscle biopsies

specialized care barriers