Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix.
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.
Huemer
M
M
Department of Pediatrics and the Department of Radiology, University of Vienna, Vienna, Austria.
Huber
W D
WD
Schima
W
W
Moeslinger
D
D
Holzbach
U
U
Wevers
R
R
Wank
H
H
Stoeckler-Ipsiroglu
S
S
D015153:Blotting, Western; D006502:Budd-Chiari Syndrome / Q000209:etiology* / Q000601:surgery; D002648:Child; D020147:Coagulation Protein Disorders / Q000150:complications* / Q000209:etiology*; D018981:Congenital Disorders of Glycosylation / Q000097:blood / Q000145:classification / Q000150:complications* / Q000235:genetics; D003241:Consanguinity; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008359:Mannose-6-Phosphate Isomerase / Q000378:metabolism; D010733:Phosphoglucomutase / Q000378:metabolism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D019168:Portasystemic Shunt, Transjugular Intrahepatic; D014168:Transferrin / Q000378:metabolism
D014168:Transferrin; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); D010733:Phosphoglucomutase; C052799:phosphomannomutase