The First Reported Case of Down Syndrome Co-existing with Glycogen Storage Disease

摘要

Although the association of Down syndrome with many diseases, such as autoimmune disorders andcongenital malformation, has been frequently reported, association with metabolic diseases has not beenreported in the literature thus far. Here, we presented a patient with Down syndrome coexisting withglycogen storage disease who could not be extubated due to marked hypotonia to emphasize that a widespectrum of clinical entities can accompany Down syndrome.