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, cilt.22, sa.3, ss.167-169, 2017 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 22 Sayı: 3
  • Basım Tarihi: 2017
  • Dergi Adı: HONG KONG JOURNAL OF PAEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.167-169
  • Erciyes Üniversitesi Adresli: Hayır

Özet

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.