A case series of infantile Pompe disease at the university college hospital Ibadan Nigeria

Infantile Pompe disease is a Glycogen storage disease caused by acid α-1,4 -glucosidase (GAA) enzyme deficiency. The deficiency makes lysosomal glycogen accumulate in cardiac, skeletal, and smooth muscle cells resulting in muscle weakness. Incidence of infantile Pompe disease is high in people of African ancestry, but a discrepancy seems to exist between this incidence and clinical observations. This may be explained by factors that make diagnosis difficult. Underdiagnosis may be reduced if healthcare providers have a high index of suspicion, especially in infants that fail to thrive. We report three cases of infantile Pompe disease seen in our practice and the challenges in diagnosis and treatment.