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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