Journal
ULTRASTRUCTURAL PATHOLOGY
Volume 42, Issue 3, Pages 211-219Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/01913123.2018.1447624
Keywords
Electron microscopy; enzyme histochemistry; glycogen storage disorder; muscle biopsy; Pompe disease; vacuolar myopathy
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Pompe disease (PD) is a lysosomal storage disorder characterized by glycogen accumulation in muscle, with infantile-onset (IOPD) and late-onset (LOPD) types. Nineteen cases of PD were diagnosed over a 14-year period on muscle biopsy by ultrastructural examination. Pools of glycogen (intralysosomal and cytoplasmic) and excessive phagocytosis were seen in myofibers on electron microscopy. Glycogen was noted in endothelial cells in IOPD. Although PD accounts for a small fraction of muscle diseases, timely accurate diagnosis is imperative as it is treatable. Ultrastructural examination is necessary to confirm the diagnosis in cases with non-diagnostic light microscopic features, especially in adult LOPD patients.
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