Clickez sur l'image pour agrandir, ou sur les textes en gras pour visionner les imges ou les pages liés . Pour revenir à l'Observation, pressez Précédente dans votre navigateur

Click on the picture to Zoom or highlighted text to view the linked pictures or pages, . And Back on your browser to review the Observation

School of Myology - Workshop - Class 2002

Case no. 1

Clinical Setting

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




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.


Back to Workshop Index  -  Next Case