Clotting Disorders Associated with Infant Stroke


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Among several factors involved in the origin of pediatric stroke, the role of an inherited promthrombotic state is currently under investigation.  Some researchers suggest that a detailed search for mutations in inherited thrombophilia is necessary in all cases of pediatric stroke.


Anticardiolipin Antibodies

Antiphospholipid syndrome (APS): currently recognized as a common risk factor for arterial or venous thromboembolic disease. These antibodies have also been associated with a range of clinical conditions including fetal loss, endocarditis, stroke, heart attack, and hemolytic anemia.

Arterial embolism:  a blood clot in an artery. Results in a sudden interruption of blood flow to an organ or body part.

Artery:  blood vessel carrying oxygen rich blood to the tissues.  A thrombosis in an artery can cause stroke, heart attack, or peripheral vascular disease.

Blood clots:  clumps that result when blood coagulates.

Disseminated intravascular coagulopathy:  This occurs when the body's blood clotting mechanisms are activated throughout the body instead of being localized to an area of injury. Small blood clots form throughout the body, and eventually the blood clotting factors are used up and not available to form clots at sites of real tissue injury. Clot dissolving mechanisms are also increased.

Embolism:  a blood clot (or a piece of plaque that acts in the same manner as a clot)  that travels from the site where it was formed to another location in the body.  The embolism can lodge in an artery at the new location and block the flow of blood there.

Factor V Leiden is an inherited disorder that can lead to abnormal blood clotting (coagulation) or thrombophilia.  The Factor V Leiden is the most common hereditary blood coagulation disorder in the United States.  The name Factor V Leiden means that there's a mutation in the DNA in the gene used to make the Factor V protein.

Hyperhomocysteinaemia: elevated homocysteine plasma levels have been found in children with stroke 

Infarction:  lack of blood and oxygen

Methylenetetrahydrofolate Reductase Mutation (MTHFR): One of the most common genetic defects of homocysteine metabolism is a mutation in the enzyme MTHFR.  Increased plasma homocysteine is a risk factor for arteriosclerotic vascular disease and deep-vein thrombosis. 

:  death of tissues

Plasminogen deficiency: an uncommon cause of inherited thrombosis.

Protein C and Protein S:  involved in regulation of coagulation (blood clotting); they inactivate factors V and VIII.

Protein C deficiency:  can result in excessive clotting. These clots tend to form in veins, not arteries.  This disorder can be either inherited or acquired

Protein S deficiency:  can result in excessive clotting tendencies.  These are usually vein clots, such as deep vein thrombosis, but occasionally this disorder can be associated with arterial clots

Prothrombin Gene mutation 020210:  an inherited mutation that can result in blood clots. A mutation in the prothrombin gene makes the body produce too much of the prothrombin protein, resulting in an increased tendency for the blood to clot.

Thrombophilia means an increased tendency for the blood to clot.  There are several reasons why the blood by have this increased tendency to clot and these include problems with proteins in the blood. Proteins are needed to help the blood clot.  If a protein has an odd shape or there isn't enough or there's too much of a it, then there may be problems with clotting.  Sometimes inherited conditions from one or both parents may cause problems with these clotting proteins. Sometimes a genetic mutation can cause thrombophilia.  A person who has inherited thrombophilia is at increased risk of developing a blood clot and this blood clot can cause a stroke.

Thrombosis:  The formation, presence or development of a blood clot.

Inherited causes of thrombophilia include:  deficiencies of antithrombin, protein C and protein S; elevated Factor VIII; Factor V Leiden (activated protein C resistance); Factor II 20210A; and dysfibrinogenemia.  Most of these are autosomal dominantly inherited.  Hyperhomocysteinemia may be inherited or acquired and non-inherited factors influence Factor VIII levels.

Tests for Hypercoagulable State:  CBC, PT, PTT, Proteins C and S, Antithrombin, Factor V Leiden (and/or APC resistance), Factor VIII C, Factor II 20210 A, Fasting homocysteine, Lupus Anticoagulant, and anticardiolipin antibody.

Vein:  blood vessel carrying blood away from the tissues (without oxygen)

Journal Articles

Elevated alpha1-antitrypsin is a risk factor for arterial ischemic stroke in childhood. 2006. Germany

Arterial ischemic stroke and cerebral venous thrombosis in children: a 12-year Argentinean registry.  2006. Argentina

The risks and safety of clopidogrel in pediatric arterial ischemic stroke. March 2006. Canada.

Study of Abnormal Blood Clotting in Children with Stroke sponsored by National Institute of Neurological Disorders and Stroke (NINDS)

Clotting Disorders - Children's Healthcare of Atlanta

Hypercoagulable states in children

Thrombophilia Support includes information on Factor V Leiden, Prothrombin 20210 mutation, Activated Protein C resistance, Protein C & S Deficiency, and other clotting disorders

Thrombophilia: Inherited and Acquired

Thrombophilia information from Children's Healthcare of Atlanta

Is thrombophilia a factor in the development of hemiplegic cerebral palsy? Nov. 2001

Effect of factor VIIIc levels in pediatric stroke patients. April 2004. Turkey.

Prothrombotic disorders and abnormal neurodevelopmental outcome in infants with neonatal cerebral infarction 2001

Symptomatic ischemic stroke in full-term neonates : role of acquired and genetic prothrombotic risk factors 2000

Prothrombotic risk factors in childhood stroke and venous thrombosis 1999

Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke

Plasminogen activator inhibitor-1 4G/5G polymorphism in Turkish children with cerebral infarct and effect on factor V 1691 A mutation 2001

Lipoprotein (a) and genetic polymorphisms of clotting factor V, prothrombin, and hyperhomocysteinaemia reductase are risk factors of spontaneous ischemic stroke in childhood 1999

Factor V Leiden and prothrombin gene G20210A mutation in children with cerebral thromboembolism. June 2003. Argentina.

Stroke in an infant heterozygous carrier of both Factor V G1691A and the G20210A prothrombin mutation. Oct. 2003. Letter. Greece. 

Factor V Leiden Thrombophilia

Cerebrovascular disorders in children with the factor V Leiden mutation Jan. 2002

Frequency of factor V Leiden in juvenile migraine with aura 2001

Factor V Leiden and Antiphospholipid Antibodies Are Significant Risk Factors for Ischemic Stroke in Children 2000

Factor V Leiden, prothrombin 20210G, and the MTHFR C677T mutations in childhood stroke

Postoperative stroke in a child with cerebral palsy heterozygous for factor V Leiden

Inherited prothrombotic conditions and premature ischemic stroke: sex difference in the association with factor V Leiden

Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke 1998

Ischemic stroke in infancy and childhood: role of the Arg506 to Gln mutation in the factor V gene 1996

Clinical manifestations of the prothrombin G20210A mutation in children: a pediatric coagulation consortium study. May 2003. California. 

Factor V Leiden and prothrombin gene G 20210 A variant in children with ischemic stroke 1998

Factor V Leiden, prothrombin 20210G, and the MTHFR C677T mutations in childhood stroke

Hyperhomocysteinemia and other inherited prothrombotic conditions in young adults with a history of ischemic stroke

Hyperhomocysteinemia: a risk factor for ischemic stroke in children

Evaluation of hyperhomocysteinaemia in children with stroke. 1999

Evaluation of hyperhomocysteinaemia in children with stroke

Deficiency of protein C in congenital thrombotic disease 1981

Factor V Leiden, prothrombin 20210G, and the MTHFR C677T mutations in childhood stroke

Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: a potential risk factor for hyperhomocysteinaemia, CVD, and stroke in childhood 2001

Neonatal cerebral ischemia with elevated maternal and infant anticardiolipin antibodies 2000

Neonatal middle cerebral artery infarction: association with elevated maternal anticardiolipin antibodies 1998

Antiphospholipid syndrome

Anti-beta2-glycoprotein I antibodies in pediatric systemic lupus erythematosus and antiphospholipid syndrome, August 2002

The significance of antiphospholipid antibodies in ischemic stroke in children in light of the most current studies 2001. Conclusions: These preliminary results invite further investigations on the role of anticardiolipid antibodies in the pathogenesis of cerebral vascular diseases in children.

High prevalence of antiphospholipid antibodies in children with epilepsy: a controlled study of 50 cases 2001

Antiphospholipid antibody syndrome manifested as a postoperative cerebrovascular event in a child 2000

High prevalence of antiphospholipid antibodies in children with idiopathic cerebral ischemia
. 1994. Italy. Study Conclusions:  Results show a very high prevalence of antiphospholipid antibodies in children with idiopathic cerebral ischemia. Because the presence of these antibodies has relevant therapeutic implications, their determination in children with cerebral ischemia is recommended.

Genetic risk factors of thrombophilia in ischaemic childhood stroke of cardiac origin. A prospective ESPED survey 1999

Anti-beta2-Glycoprotein I Antibodies and Ischemic Stroke in a 20-Month-Old Boy. July 2003;  Greece.

Possible correlation between high levels of IL-18 in the cord blood of pre-term infants and neonatal development of periventricular leukomalacia and cerebral palsy Feb. 2002

Arterial ischemic stroke in childhood: the role of plasma-phase risk factors

Common mutations at the homocysteine metabolism pathway and pediatric stroke 2001

Infant stroke and beta-2-glycoprotein 1 antibodies. Oct. 2003. Finland. Ebeling, Petaja, Alanko.

Arteriovenous malformations of the brain in children: A forty year experience.

Spontaneous intracerebral hemorrhage in children.

Lipoprotein (a): Its role in childhood thromboembolism 1997

Iron deficiency: A cause of stroke in infants and children 1997

Links to information on Genetic Causes of Strokes - adults

Genetic Causes of Strokes

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