Metabolic Myopathies Diagnosis

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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).

Source: Amato AA, Russell JA. Neuromuscular Disorders, 2e; 2015

Leah Carton

Associate Editor - Pediatrics, Dermatology, Geriatrics , McGraw Hill