Metabolic Myopathies Diagnosis

What's your diagnosis?
Metabolic Myopathies 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).

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

Create a Free MyAccess Profile

AccessMedicine Network is the place to keep up on new releases for the Access products, get short form didactic content, read up on practice impacting highlights, and watch video featuring authors of your favorite books in medicine. Create a MyAccess profile and follow our contributors to stay informed via email updates.