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

The Journal of pediatrics ·Vol. 136 ·No. 5 ·2000-05-00 ·Pages 691-5

Huemer M, Huber WD, Schima W, Moeslinger D, Holzbach U, Wevers R, Wank H, Stoeckler-Ipsiroglu S

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.

MeSH Terms

Blotting, Western Budd-Chiari Syndrome/etiology,surgery Child Coagulation Protein Disorders/complications,etiology Congenital Disorders of Glycosylation/blood,classification,complications,genetics Consanguinity Humans Intellectual Disability/genetics Male Mannose-6-Phosphate Isomerase/metabolism Phosphoglucomutase/metabolism Phosphotransferases (Phosphomutases)/metabolism Portasystemic Shunt, Transjugular Intrahepatic Transferrin/metabolism

Chemicals

Transferrin Mannose-6-Phosphate Isomerase Phosphotransferases (Phosphomutases) Phosphoglucomutase phosphomannomutase

Authors & Affiliations

8 authors, click to expand affiliations / ORCID

Huemer M

Department of Pediatrics and the Department of Radiology, University of Vienna, Vienna, Austria.

Huber W D

Schima W

Moeslinger D

Holzbach U

Wevers R

Wank H

Stoeckler-Ipsiroglu S

Article Info

Journal

The Journal of pediatrics

Abbr.

J Pediatr

ISSN

0022-3476

DOI

10.1067/mpd.2000.105130

Published

2000-05-00

Pages

691-5

Language

English

Region

United States

NLM ID

0375410

Subset

External Links

PubMed source DOI: 10.1067/mpd.2000.105130 View journal details

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

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