Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.

Huemer, M; Huber, W D; Schima, W; Moeslinger, D; Holzbach, U; Wevers, R; Wank, H; Stoeckler-Ipsiroglu, S · J Pediatr · 2000

case_report · Level V

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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