Classic infantile form of Pompe disease: report of 2 cases

Abstract

Aim: To illustrate the diagnostic features of glycogenosis type II and to underline the contribution of enzyme replacement therapy. Observations: We present two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy. The first was a 6-month-old female with hypotonia, hepatomegaly and growth delay; fatal evolution at 9 months. The second was a 4-month-old female with the same symptomatology. Diagnosis was confirmed by blood alpha-glucosidase and genetic assays. Enzyme replacement therapy was initiated with clinical improvement. Conclusion: PD is a serious metabolic disease that leads to death within the first year in the absence of early diagnosis and treatment.