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Washington University Experience | MUSCLE | Centronuclear myopathy | 3A1-Centronuclear-Myopathy-Case-3-H-E-1.jpg
Case 3 History ---- The patient is a one year old boy with congenital muscle weakness who is ventilator dependent. Magnetic resonance imaging performed at an outside hospital reportedly showed absence of white matter with significant T2 signal abnormality and changes consistent with periventricular leukomalacia. Electromyography showed evidence of a non-irritable myopathy and no evidence of peripheral neuropathy or postsynaptic neuromuscular junction defect. Clinical differential diagnosis included muscle-eye-brain disease, merosin deficient myopathy, and centronuclear myopathy. Operative procedure: Right quadriceps muscle biopsy. ---- 3A1-6 In this case of centronuclear myopathy the changes are severe with many muscle fibers having central nuclei. (H&E)
