Multiple, Successful Pregnancies in Pompe Disease

Abstract

Pompe disease is an autosomal recessive lysosomal storage disease characterized in adult patients by slowly progressive limb-girdle muscle weakness and respiratory insufficiency. Data on pregnancy in women with Pompe disease, intrauterine development of the fetus and parturition are rare. Here we describe a twin pregnancy followed by a second pregnancy in a 38-year-old female patient with Pompe disease. We report the impact of pregnancy on muscle and respiratory functions as well as the neurological and endocrine systems and discuss the medical consequences for anaesthetic management at parturition.

Anaesthetic management of caesarean section in a patient with Pompe disease

“…[ 1 ] Epidural or combined spinal–epidural anaesthesia could be used for caeserean section. [ 5 6 ] But this could be difficult if there is associated scoliosis. The cough, gag, and swallowing reflexes are affected increasing the risk of aspiration.…”