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Washington University Experience | MUSCLE | Nemaline rod myopathy | 4A (Case 4) 40X 1
Case 4 History ---- The patient is a 45-year-old man with progressive, painless distal left lower extremity weakness for 2.5 years with footdrop and calf/quadriceps atrophy, as well as new left-hand weakness. EMG has been unremarkable. Thigh MRI showed fatty atrophy and edema of the distal rectus femoris with minimal contrast enhancement, suspicious for an acute on chronic myositis. Serum showed borderline IgM binding to NS6S. Antibody testing showed elevated anti-GalNAc-GD1a antibodies. There is clinical concern for a motor neuropathy. Operative procedure: quadriceps femoris muscle biopsy. ---- 4A One micron thick toluidine blue stained sections showed marked variation in fiber sizes including a population of small, round fibers who have lost many of their sarcomeres. (plastic sections)
