Evaluation of Pompe Disease from a Broad and Systemic Perspective

Pompe disease is a lysosomal storage disorder caused by α-1,4-glucosidase deficiency. The broad spectrum of clinical manifestations results from glycogen accumulation in the muscles and central nervous system (CNS). In this study, we aimed to evaluate the clinical course of Pompe disease. This brief report included six patients. The collected data included demographic characteristics, clinical findings, echocardiography, electroencephalography, electromyography, and brain magnetic resonance imaging. High-dose enzyme replacement therapy reduced the severity of hypertrophic cardiomyopathy in patients with infantile-onset Pompe disease. Three patients exhibited speech difficulties, one patient was diagnosed with epilepsy, and MRI revealed white matter abnormalities in three patients. The neurological findings observed in patients with CNS involvement suggest that those with infantile-onset Pompe disease should be closely monitored for neurocognitive development. Novel treatments capable of crossing the blood-brain barrier may benefit these patients.