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Myhre Syndrome: Muscle Pathology

Muscle fibers Fiber types: 2C fibers with normal morphology increased Fiber size: Mildly varied Connective tissue (Perimysium): Increased histiocytic cells; Whorled structure; Wide Elastin fibrils: Thin & Irregular in Vessels & Connective tissue H&E stain

H&E stain

Type 2C fibers: Common ATPase pH 4.3 stain

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Gomori trichrome stain

VvG stain

Perimysial Connective tissue
  Whorled structure
  Fibrils: Irregular
  Histiocytic cells: Increased

Acid phosphatase stain

NADH stain

Perimysial Cells   Stain for NADH & Caveolin-3 Caveolin-3 stain

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Perimysium
  Elastin fibrils: Thin & Branched
  Vessels: Elastin fibrils thin & wavy

VvG stain

VvG stain

VvG stain

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7/30/2016