Abstract
Background: As enzyme replacement therapy for Pompe disease has become recently available, utmost care is required from clinicians and muscle pathologists alike to avoid overlooking cases. In infantile- and childhood-onset cases, muscle pathology almost always shows a remarkable and characteristic vacuolar change with glycogen accumulation, which is diagnostic of Pompe disease. In adult cases, however, such a vacuolar change is often subtle or can even be absent. Therefore, making a diagnosis of Pompe disease in adult cases can be a challenge for muscle pathologists especially when sample is not appropriate in size or in quality, or both.
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