School of Myology - Workshop - Class
Case No. 7
Male child. 3 yo. Neonatal hypotonia. Multiple
contractures. CK: 800 U.
Fibers varying in size, atrophic,
rarely hyalinised with focal necrosis, and moderate endomysial fibrosis.
Gomori stain discloses a similar
pattern, and enzymatic techniques are unremarkable.
Modifications are noted in the
differente fiber types.
Immunohistochemistry with antibodies
for the different dystrophins, and sarcoglycans is positive.
is negative, while other components of the merosin (alpha-2,
beta, gamma-laminin) are positive.
Congenital muscular dystrophy, with merosin