Cognitive decline in classic infantile Pompe disease: An underacknowledged challenge

Abstract

Classic infantile Pompe disease is a progressive lysosomal glycogen storage disorder, which, if untreated, leads to severe skeletal muscle weakness, inability to achieve any motor milestones, and death in the first year. In 1999, we reported the first successful use of enzyme replacement therapy (ERT).1 Since then, patients' outcome with respect to survival, cardiac function, and motor performance has improved significantly. The oldest patient is currently 16 years old. Although glycogen storage occurs in the brain as well, and ERT cannot pass the blood–brain barrier, so far clinical studies show normal to mildly delayed cognitive development.2,3 Acknowledgment: The authors thank David Alexander (Erasmus Medical Center Rotterdam) for editing the manuscript for nonintellectual content, Laurens Groenendijk (Erasmus Medical Center Rotterdam) for preparing the figure, and Carin van Gelder (Erasmus Medical Center Rotterdam) for collecting data.