RECURRENT THROMBO-EMBOLISM IN A CHILD WITH A CONGENITAL DISORDER OF GLYCOSYLATION (CDG) TYPE IB AND TREATMENT WITH MANNOSE

R. Y. J. Tamminga*, D. J. Lefeber, W. A. Kamps, F. J. van Spronsen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)

Abstract

Thrombosis is a multifactorial disorder. Congenital disorders of glycosylation (CDG) are one of the known risk factors for its occurrence. These disorders result in glycosylation defects of glycoproteins, including those of the (anti-)coagulation system. CDG-Ib can specifically be treated with mannose, as illustrated by the case of a 4-year-old girl in whom deep venous thrombosis was the presenting symptom after a common viral infection. The diagnosis was made after recurrent episodes of thrombo-embolism and consumptive coagulopathy. After treatment with mannose no such episodes recurred. The pathophysiology of CDG as a risk factor for thrombotic disease is discussed.

Original languageEnglish
Article number906491636
Pages (from-to)762-768
Number of pages7
JournalPediatric hematology and oncology
Volume25
Issue number8
DOIs
Publication statusPublished - 2008

Keywords

  • CDG
  • coagulopathy
  • congenital disorder of glycosylation
  • Jaeken syndrome
  • mannose
  • thrombosis
  • DEFICIENT GLYCOPROTEIN SYNDROME
  • PHOSPHOMANNOSE ISOMERASE DEFICIENCY
  • COAGULATION ABNORMALITIES
  • HYPOGLYCEMIA

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