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Case Study 84 Leonidas Arvanitis, MD

Case Study 84 Leonidas Arvanitis, MD. Question 1: . A 60 year old male presents with generalized muscle weakness Describe the histologic findings on the H&E and NADH stains Click here to view H&E and NADH stains. Answer 1:. H&E stained frozen sections

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Case Study 84 Leonidas Arvanitis, MD

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  1. Case Study 84Leonidas Arvanitis, MD

  2. Question 1: • A 60 year old male presents with generalized muscle weakness • Describe the histologic findings on the H&E and NADH stains • Click here to view H&E and NADH stains

  3. Answer 1: • H&E stained frozen sections • Abnormal variation in myofiber sizes (25-100 microns) • Excess of internalized nuclei • Degenerating or regenerating fibers or inflammatory infiltrates are not seen • NADH-TR reacted sections • One or two central or eccentric cores in the vast majority of fibers. • On longitudinal section the cores traverse the length of the fiber. • No target fibers are seen • The cores involve primarily type 1 fibers

  4. Question 2: • Based on the most likely diagnosis what would an ATPase stain show?

  5. Answer 2: • Type 1 fiber predominance

  6. Question 3: • Would electron microscopy be helpful?

  7. Answer 3: • Yes. It would reveal the absence of mitochondria and sarcoplasmic reticulum in core regions

  8. Question 4: • What is your diagnosis?

  9. Answer 5: • Central core myopathy

  10. Question 6: • Central core myopathy is caused by mutations in which gene? • RYR1 encoding Ryanodine receptor • SEPN1 encoding Selenoprotein N1 • NEB encoding Nebulin • MTM1 encoding Myotubalarin

  11. Answer 6: • Central core myopathy is caused by mutations in which gene? • RYR1 encoding Ryanodine receptor • SEPN1 encoding Selenoprotein N1 • NEB encoding Nebulin • MTM1 encoding Myotubalarin

  12. RYR1 gene • RYR1 gene encodes for the protein ryanodine receptor, which is a ligand-gated release channel for Ca²´ stored in the terminal cisterna

  13. Question 7: • What other condition is the same gene responsible for?

  14. Answer 7: • Malignant hyperthermia

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