Treatment with enzyme replacement therapy during pregnancy in a patient with Pompe disease

Pregnancy is in general physically demanding, even more so for women with hereditary muscular diseases (HMDs). With increasing numbers of women with HMD reaching reproductive age, there is a growing need for research into what impact pregnancy can have on their clinical condition. A 25-year-old woman was diagnosed with Pompe disease at the age of 22 and began enzyme replacement therapy (ERT) right away. At the age of 25 she became pregnant. ERT was paused during the first trimester and recommenced throughout the second and third trimesters. Her clinical condition throughout the pregnancy remained stable. Delivery was uneventful, but prolonged and physically demanding. After delivery, cystitis further compromised her health, leaving her bedridden during early postpartum. In this case, continuing ERT during pregnancy resulted in a healthy outcome, with an uneventful pregnancy and delivery of a normal and healthy baby. However, data on pregnancy in women with Pompe disease are rare.