Glycogen storage disease type II complicating pregancy: a case report and literatures review

Objective To summarize the clinical features of glycogen storage disease type II (GSD II) combined with pregnancy. Methods The literature review was conducted based on the cases published and the one hospitalized in our hospital. Results GSD II is an autosomal recessive hereditary disease, which is attributed to the muatation of a-glucosidase gene. Followed by the decreased activity of a-glucosidase enzyme, the glycogen cannot be degradated and deposited in the tissues and organs, and thus causing the clinical spectrum. The type of late onset mainly involves respiratory muscles, and the physical changes during pregnany may worsen the disease. Conclusion The patients with GSD II are not unable to get pregnancy, but they should undertake genetic counseling before pregnancy. During pregnancy, except for regular prenatal care and close monitoring, we should build up multidisciplinary collaboration, and personally appropriate way of delivery. Key words: Glycogen storage disease type II (GSD II); Pregnancy; Literature review