Background: Pompe disease is an inherited neuromuscular disease caused by a deficiency of lysosomal acid alphaglucosidase (GAA) leading to glycogen accumulation in muscle and motor neurons.
Methods: We retrospectively collected the clinical information on the case of a 2-year-old child admitted to the emergency department with respiratory failure and generalized hypotonia.
Results: Chest radiograph, cerebral and spinal magnetic resonance imaging, muscle biopsy, etc. were all examined. The 2-year-old child was later diagnosed with Pompe disease. Systematic assessment and effective sedation management were applied.
Conclusions: Differential diagnosis, systematic assessment, and effective sedation management are important for Pompe disease patients.