Infantile-Onset Pompe Disease: About 5 Cases

Abstract

Pompe disease, is a rare severe, autosomal, recessive, and progressive genetic disorder caused by deficiency in alpha-glucosidase. The classic infantile-onset is the most broadly known form of Pompe disease, which presents with severe heart involvement and clear hypotonia, while the non-classic presentation occurs with early motor involvement. Late-onset Pompe disease develops in adults, but it may also occur during childhood or adolescence. We report a retrospective and descriptive study of a series of five Moroccan patients with confirmed diagnosis of IOPD; and we update the available clinical and diagnostic findings because an early management with enzyme replacement therapy may improve patients’ survival and quality of life.