School of Myology - Workshop - Class
2002
Case No.3
Clinical Setting
Female child. 5 yo. Progressive muscular weakness.
CK 2500 U.
Pathology
Microscopy
HE
stain shows subsarcolemmal irregular basophilic structures in
some fibers, which are fuschinophilic on Gomori
stain (Ragged Red Fibers).
Increased vacuoles are observed
to Red Oil O staining, and changes in
Cytochrome c Oxydase activity.
Similar pattern is found with
NADH and SDH, with internal structural disorganisation,
Proposed diagnosis
Metabolic myopathy, mitochondrial.
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