Metabolic Myopathies Diagnosis
What's your diagnosis?
Type IV glycogenoses/Anderson disease. Muscle biopsy reveals vacuolated fibers on H&E (A) and modified Gomori trichrome (B) that appear to contain amorphous debri, which are periodic acid–Schiff (PAS)-positive (C), and diastase resistant (D) suggestive of a filamentous polysaccharide that is not glycogen (i.e., polyglucosan). Semithin plastic sections counterstained with PAS demonstrate increased polysaccharide deposition within muscle fibers (E).