Table of Contents

HK J Paediatr (New Series)
Vol 22. No. 3, 2017

HK J Paediatr (New Series) 2017;22:167-169

Case Report

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

AB Ergul, E Sevinc, A Ozcan, YA Torun


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.

Keyword : Childhood; Down syndrome; Glycogen storage disease

Abstract in Chinese


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