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Case Study 85 Leonidas Arvanitis

Case Study 85 Leonidas Arvanitis. Question 1: . A 25 year old female complains of hypotonia and muscle weakness CK levels are mildly elevated Describe the histologic findings on the H&E and Gomori trichrome stains Click here to view H&E and Gomori stains. Answer 1:.

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Case Study 85 Leonidas Arvanitis

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  1. Case Study 85Leonidas Arvanitis

  2. Question 1: • A 25 year old female complains of hypotonia and muscle weakness • CK levels are mildly elevated • Describe the histologic findings on the H&E and Gomori trichrome stains • Click here to view H&Eand Gomori stains

  3. Answer 1: • H&E stained frozen sections • Abnormal variation in myofiber sizes (15-80 microns) • Mild excess of internalized nuclei • Gomori trichrome reacted sections • Dark staining inclusions which are cytoplasmic and clustered at the periphery of the fibers

  4. Question 2: • Based on the most likely diagnosis what would electron microscopy show?

  5. Answer 2: • Electron dense rods or ovoid structures derived from Z-line material

  6. Question 3: • What is the major constituent of theses rods?

  7. Answer 3: • A-actinin

  8. Question 4: • What is your diagnosis?

  9. Answer 4: • Nemaline myopathy

  10. Question 5: • Nemaline myopathy is caused by mutations in which genes?

  11. Answer 5: • The most common mutations involve the ACTA1 and NEB genes • ACTA1 gene encodes skeletal muscle α-actin • NEB gene encodes nebulin

  12. Question 6: • Are rods specific to nemaline myopathy?

  13. Answer 6: • No, they can also be seen in • Myotendinous junctions • External ocular muscles • Aging muscles

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