Pompe Disease in Children: First case reported in Panama

Abstract

Pompe disease is a rare hereditary disease caused by deficiency of the enzyme alpha glucosidase acid (AGA) responsible for degrading intralisosomal glycogen. It is considered a deposit disease and exists in two forms: infantile or early onset and late onset with manifestations after one year of age. The infantile form is rapidly progressive, causing death before the first year of life if there is no timely and adequate therapeutic intervention. From the development of enzyme replacement therapy (ERT), early diagnosis becomes more relevant. The case of an 8-month-old patient with respiratory distress, hypotonia, impaired development and diet is presented. Cardiological examination showed findings of cardiomyopathy. Clinical findings point to Pompe disease. The test is done on filter paper that reports positive for Pompe disease. However, the patient dies on the 25th day of hospitalization before starting enzyme replacement therapy. It is the first case reported in our environment.