Document Detail

A novel mutation in the SerpinC1 gene presenting as unprovoked neonatal cerebral sinus venous thrombosis in a kindred.
MedLine Citation:
PMID:  22997155     Owner:  NLM     Status:  MEDLINE    
Antithrombin (AT) deficiency has been associated with an increased risk of pediatric cerebral sinus venous thrombosis (CSVT); but few cases of neonatal CSVT have been reported. We describe two half-siblings who presented with seizures in the first week of life and were found to have extensive CSVT with associated parenchymal and intraventricular hemorrhage. Both infants were found to have type 1 AT deficiency. Sequencing of the SerpinC1 gene revealed a novel heterozygous mutation on exon 5 (c.1009C > T p.Q337X). Both infants were treated with anticoagulation and had recanalization of the dural sinuses on follow up imaging.
Riten Kumar; Mahendranath Moharir; Ivanna Yau; Suzan Williams
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-09-19
Journal Detail:
Title:  Pediatric blood & cancer     Volume:  60     ISSN:  1545-5017     ISO Abbreviation:  Pediatr Blood Cancer     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-11-20     Completed Date:  2013-03-07     Revised Date:  2013-04-23    
Medline Journal Info:
Nlm Unique ID:  101186624     Medline TA:  Pediatr Blood Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  133-6     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Division of Hematology Oncology, Hospital for Sick Children, University of Toronto, Toronto, Canada.
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MeSH Terms
Antithrombin III / genetics*
Child, Preschool
Infant, Newborn
Sinus Thrombosis, Intracranial / genetics*
Reg. No./Substance:
0/SERPINC1 protein, human; 9000-94-6/Antithrombin III

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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