Infantile-Onset Glycogen Storage Disease Type II (Pompe Disease): Report of a Case

GSD-II is an autosomal recessive disorder, caused by deficient activity of lysosomal acid α-glucosidase (acid maltase) (GAA). Affected infants can appear normal at birth, but soon develop generalized muscle weakness, areflexia, macroglossia, hepatomegaly and massive cardiomegaly.In this report,we describe a case of infantile-onset Pompe disease with typical clinical appearance.

Keywords:

Infantile-onset glycogen storage disease , Pompe disease , HCM , DCM , Heart failure