title: Preterm infant with a catastrophic hemorrhagic-thromboembolic incident.
abstract: Thrombotic disease of the newborn is uncommon but usually associated with serious morbidity and mortality. Although the operating mechanisms of coagulation and fibrinolysis are the same in all age groups, plasma concentrations of the two systems' components are significantly different in neonates compared to children and adults. This places neonates at greater risk for thrombosis that may rise considerably if a predisposing factor is present or a genetic or medical condition predisposing to thrombosis coexists. While marginal, the possibility of abnormal bleeding secondary to congenital prothrombotic disorders has been described. A significant association between thromboembolic/hemorrhagic disease in newborns and each of factor V(Leiden) and prothrombin G20210A mutations has been reported. Although not a frequent occurrence in adults and children, congenital 'multigenic' thrombophilia is well known. However, the combined heterozygote state of both mutations is perhaps underreported in preterm infants. We present a severely intrauterine growth-restricted preterm baby born to consanguineous parents. He had stroke as part of a generalized bleeding-thromboembolic incident caused by combined heterozygote mutation of factor V(Leiden) and prothrombin G20210A, each of which was then found in a heterozygote form in each of the 2 parents.
authors.affiliation: Rosie Hospital, Cambridge University Hospitals, Cambridge, UK. dkishot@doctors.net.uk
authors.forename: Adel E
authors.initials: AE
authors.lastname: Abdelhamid
mesh_terms: D025861:Blood Coagulation Disorders, Inherited / Q000175:diagnosis / Q000235:genetics*; D002543:Cerebral Hemorrhage / Q000000981:diagnostic imaging / Q000235:genetics*; D003241:Consanguinity; D004211:Disseminated Intravascular Coagulation / Q000175:diagnosis / Q000235:genetics*; D005165:Factor V / Q000235:genetics*; D017809:Fatal Outcome; D005317:Fetal Growth Retardation; D005865:Gestational Age; D006801:Humans; D052577:Infant, Extremely Low Birth Weight; D062071:Infant, Extremely Premature; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D011516:Prothrombin / Q000235:genetics*; D020521:Stroke / Q000235:genetics; D013923:Thromboembolism / Q000235:genetics*; D014463:Ultrasonography
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin