Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.
case_report · Level V
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- Record sourced from PubMed, PMID 10802506.
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Abstract
A 6-year-old male patient presented with Budd-Chiari syndrome and glycoprotein abnormalities associated with carbohydrate deficient glycoprotein syndrome type I with yet unidentified molecular defect (type Ix). Budd-Chiari syndrome most likely developed after hepatic venous thrombosis caused by coagulation abnormalities resulting from hypoglycosylation and functional impairment of anticoagulant proteins.
Medical subject headings
- Budd-Chiari Syndrome
- Coagulation Protein Disorders
- Congenital Disorders of Glycosylation