1 / 13

Case Study 85 Leonidas Arvanitis

Explore case study findings of a 25-year-old female with hypotonia and muscle weakness, detailing histologic findings and electron microscopy characteristic of nemaline myopathy. Discover genetic mutations and rod presence outside nemaline myopathy.

ghartzell
Download Presentation

Case Study 85 Leonidas Arvanitis

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  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

More Related