摘要
Thomsen disease is a rare genetic disorder which affects the cell membrane of skeletal muscles causing hyper excitability and periods of prolonged muscle contraction. This prolonged muscle contractions can be aggravated during pregnancy and can interfere with normal labour and delivery. In this case report, we describe the case of a gravid patient in her first pregnancy with Thomsen disease and how to minimise the risk. Also, we illustrate the importance of involving multidisciplinary team in the management of such case to achieve the best fetomaternal outcome.
Thomsen disease is a rare genetic disorder which affects the cell membrane of skeletal muscles causing hyper excitability and periods of prolonged muscle contraction. This prolonged muscle contractions can be aggravated during pregnancy and can interfere with normal labour and delivery. In this case report, we describe the case of a gravid patient in her first pregnancy with Thomsen disease and how to minimise the risk. Also, we illustrate the importance of involving multidisciplinary team in the management of such case to achieve the best fetomaternal outcome.