M. Huemer et al., Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix, J PEDIAT, 136(5), 2000, pp. 691-695
A 6-year-old male patient presented with Budd-Chiari syndrome and glycoprot
ein abnormalities associated with carbohydrate deficient glycoprotein syndr
ome type I with yet unidentified molecular defect (type Ix). Budd-Chiari sy
ndrome most likely developed after hepatic venous thrombosis caused by coag
ulation abnormalities resulting from hypoglycosylation and functional impai
rment of anticoagulant proteins.