title: Recurrent thrombo-embolism in a child with a congenital disorder of glycosylation (CDG) type Ib and treatment with mannose.
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.
authors.affiliation: Department of Pediatric Oncology/Hematology, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. r.y.j.tamminga@bkk.umcg.nl
authors.forename: R Y J
authors.initials: RY
authors.lastname: Tamminga
authors.forename: D J
authors.initials: DJ
authors.lastname: Lefeber
authors.forename: W A
authors.initials: WA
authors.lastname: Kamps
authors.forename: F J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D001779:Blood Coagulation Factors / Q000032:analysis; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006031:Glycosylation / Q000187:drug effects; D006801:Humans; D008358:Mannose / Q000627:therapeutic use*; D012008:Recurrence; D013923:Thromboembolism / Q000188:drug therapy* / Q000209:etiology / Q000378:metabolism
chemical_list: D001779:Blood Coagulation Factors; D008358:Mannose