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School of Myology - Workshop - Class 2002

Case no. 2

Clinical Setting

Male adult. 20 yo. Exercise intolerance. Myalgias




HE discloses subsarcolemmal blebs, and vacuoles. Central migration of nucleii are noted. Vacuoles are positive to PAS Stain.



Vacuoles are also noted on Gomori Stain. They are negative to Oil Red O stain.


Vacuoles are noted in the two types of fibers with ATP pH 9.


Proposed diagnosis

Metabolic myopathy consistent with a glycogen storage disorder (Mac Ardle's disease).


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