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School of Myology - Workshop - Class 2002

Case no. 1

Clinical Setting

Male child, 5 yo, Progressive muscular weakness, CK: 20 000 U.

Pathology

 

  

Different areas on HE stain discloses mainly fibrosis in endomysium, surounding rounded fibers varying in size, staining pattern, and texture. Some are necrotic.

 

  

Oxydative technique NADH, and ATP pH 4.6 demonstrate changes in both fiber types.

 

  

Immunohistochemistry, discloses irregular staining to Dystrophin 1, and negativity to Dystrophin 2.

 

  

Immunohistochemistry with markers against different types of sarcoglycans, and laminin are positive.

 

 

Proposed diagnosis

Dystrophin deficiency consistent with a Progressive muscular dystrophy, Duchenne.

 

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