Document Detail

Intracerebral mass bleeding in a term neonate: manifestation of hereditary protein S deficiency with a new mutation in the PROS1 gene.
MedLine Citation:
PMID:  20484936     Owner:  NLM     Status:  In-Process    
BACKGROUND: Vitamin K deficiency is the major cause of coagulopathy-induced intracranial bleeding in term neonates and is considered first in any term neonate with severe hemorrhage. The most common manifestation of hereditary prothrombotic disorders during the neonatal period is thrombosis of the A. cerebri media or sinus thrombosis.
CASE REPORT: A 4-day-old newborn was admitted with seizures and hemorrhagic shock. Ultrasound revealed a left-sided intraparenchymatous bleeding. MRI findings supported a subarachnoidal and intracerebral mass bleeding. Vitamin K deficiency-related bleeding or hemophiliac diseases were excluded; however, homozygous protein S deficiency with a new mutation in the protein S (PROS1) gene (c.701A>G, p.Tyr234Cys) was found. The patient experienced an additional thrombosis of the A. abdominalis and expired.
CONCLUSION: Congenital prothrombotic disorders have to be considered in the differential diagnosis of neonatal intracranial hemorrhage. This newly described mutation in the PROS1 gene (c.701A>G, p.Tyr234Cys) appears to be of clinical relevance.
Doris Fischer; Luciana Porto; Hildegard Stoll; Christof Geisen; Rolf L Schloesser
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Publication Detail:
Type:  Journal Article     Date:  2010-05-20
Journal Detail:
Title:  Neonatology     Volume:  98     ISSN:  1661-7819     ISO Abbreviation:  Neonatology     Publication Date:  2010  
Date Detail:
Created Date:  2010-11-22     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101286577     Medline TA:  Neonatology     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  337-40     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Division of Neonatology, Department of Pediatrics, JW Goethe University Hospital Frankfurt, Frankfurt, Germany. doris.fischer @
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