Document Detail

MTHFR C677T and A1298C polymorphisms and cerebral stroke in two twin gestations.
MedLine Citation:
PMID:  21113717     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Stroke in pediatric age is a rare event with a multifactorial genesis which could involve genetic factors as methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism. At the same time, twin gestation with co-twin demise is an important potential risk factor for premature brain damage.
PATIENTS AND METHODS: We describe two children presenting with presumed cerebral stroke born from two MC twin pregnancies in which the other co-twin had died in utero associated to maternal and fetal homozygosity for MTHFR C677T and MTHFR A1298C, respectively. Brain damage was diagnosed immediately before the delivery.
CONCLUSION: Our observations underline the necessity to make a thrombophilia workup in women before or during pregnancy and, above all, in twin pregnancy. Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A). A multifactorial genesis for severe fetal and perinatal cerebral vascular alterations has been supposed; for this reason an early folate supplementation both to mother and infant could reduce the risk of brain damage due to fetal/perinatal stroke and eventual recurrence of thrombotic events.
Carla Arpino; Eliana Compagnone; Denise Cacciatore; Antonella Coniglio; Mario Castorina; Paolo Curatolo
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Publication Detail:
Type:  Case Reports; Journal Article; Twin Study     Date:  2010-11-27
Journal Detail:
Title:  Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery     Volume:  27     ISSN:  1433-0350     ISO Abbreviation:  Childs Nerv Syst     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-14     Completed Date:  2011-07-06     Revised Date:  2012-02-09    
Medline Journal Info:
Nlm Unique ID:  8503227     Medline TA:  Childs Nerv Syst     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  665-9     Citation Subset:  IM    
Department of Neuroscience, Pediatric Neurology Unit Tor Vergata University of Rome, Rome, Italy.
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MeSH Terms
Child, Preschool
Diseases in Twins / genetics*
Fetal Death / genetics*
Genetic Predisposition to Disease / genetics*
Infant, Newborn
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Polymorphism, Single Nucleotide*
Pregnancy Complications / genetics*
Stroke / genetics*,  pathology
Reg. No./Substance:
EC Reductase (NADPH2)
Comment In:
Childs Nerv Syst. 2012 Jan;28(1):13   [PMID:  22038154 ]

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