Report of the first Brazilian infantile Pompe disease patient to be treated with recombinant human acid alpha-glucosidase.

OBJECTIVE To describe the first case of infantile Pompe disease to be treated in Brazil. DESCRIPTION Pompe disease is a glycogen storage disease related to defects in the acid alpha-glucosidase enzyme, leading to an intracellular accumulation of glycogen, mainly in muscles. Two forms are described: infantile and juvenile. Since 2006, treatment with recombinant human acid alpha-glucosidase has been available. This article describes the first case of infantile Pompe disease treated in Brazil. A girl presented at 2.5 months of age with rapid disease progression, exhibiting severe hypotonia, loss of movements in both upper and lower limbs and hypertrophic cardiomyopathy, progressing to respiratory failure by the age of 7 months. After 10 months of treatment, she exhibited a good clinical response, with remission of the respiratory failure, partial recovery of arm and leg movements and improvement of cardiologic condition. COMMENTS Despite its low incidence, infantile Pompe disease is lethal. The availability of an effective treatment has created an urgent need to improve knowledge and early diagnosis of this disease.