School of Myology - Workshop - Class
Case no. 1
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.
irregular staining to Dystrophin 1,
and negativity to Dystrophin 2.
Immunohistochemistry with markers
against different types of sarcoglycans,
and laminin are positive.
Dystrophin deficiency consistent with a Progressive
muscular dystrophy, Duchenne.