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

Ergul A. B., SEVİNÇ E., ÖZCAN A., Torun Y. A.

HONG KONG JOURNAL OF PAEDIATRICS, vol.22, no.3, pp.167-169, 2017 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 3
  • Publication Date: 2017
  • Journal Name: HONG KONG JOURNAL OF PAEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.167-169
  • Erciyes University Affiliated: No

Abstract

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