A Case of Early Infantile Pompe Disease with Atypical Manifestation

Pompe disease is a rare autosomal recessive lysosomal storage disease caused by defi ciency of acid α-glucosidase (GAA). This defi ciency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage, and organ dysfunction. In early onset patients (the classic infantile form), this glycogen accumulation leads to death, usually before the age of 1 year. Some patients with early onset do not develop cardiomyopathy and their progression is slower (atypical infantile form). We reported a case with an atypical infantile form.