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Washington University Experience | MUSCLE | Myopathies with Mitochondrial Pathology | 21A0 Case 21 History
Case 21 History ---- The patient is a 68-year-old woman with external ophthalmoplegia, longstanding sensorineural hearing loss status post cochlear implants, quadriparesis, chronic cachexia, and a history of exercise intolerance, with strong suspicion for a mitochondrial disorder. She was recently diagnosed with seronegative myasthenia gravis at an outside institution, received a few courses of IVIg, and was placed on prednisone and pyridostigmine in the setting of comorbid heart failure. Her ICU course was complicated by sepsis, and she is status post tracheostomy and G-tube placement. AChR binding and MuSK antibodies are negative. Electrodiagnostic testing showed possible right median and ulnar mononeuropathies but no evidence of a neuromuscular junction disorder or myopathy. CT of the orbits showed generalized extraocular muscle atrophy. Serum NfL was elevated (125 pg/mL) as was plasma GDF-15 (1999 pg/mL). A recent outside muscle biopsy was considered nondiagnostic. Operative procedure: Left biceps biopsy.
