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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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