Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood. There is increasing evidence that inherited and acquired coagulation abnormalities alone or in combination with environmental factors, predispose to arterial and venous thrombosis. Inherited abnormalities of factor V Leiden, prothrombin, protein C, protein S, and antithrombin III may account for many of these thromboses. At present there is little information on the existing distribution of these coagulation anomalies in children with thrombosis. Recent reports also suggest that these clotting abnormalities may be responsible for some instances of intracranial hemorrhage, porencephaly, cerebral palsy and fetal death.

This study will measure the frequency of several coagulation factor abnormalities (factor V Leiden, prothrombin 20210A, protein C, protein S, antithrombin III, and antiphospholipid antibodies) in children with a history of porencephaly and stroke, and will compare these to the prevalence of these mutations in population controls and family members. We will also describe the exogenous conditions which in concert with these coagulation factors, may have led to the development of thrombosis in these children.

Condition
Abnormalities Blood Coagulation Disorder Brain Disease Cerebrovascular Accident Vascular Disease

Further Study Details: 

Expected Total Enrollment:  228

Effective treatment and prevention strategies for childhood stroke and porencephaly can only be developed once the causes are understood. There is increasing evidence that inherited and acquired coagulation abnormalities alone or in combination with environmental factors, predispose to arterial and venous thrombosis. Inherited abnormalities of factor V Leiden, prothrombin, protein C, protein S, and antithrombin III may account for many of these thromboses. At present there is little information on the existing distribution of these coagulation anomalies in children with thrombosis. Recent reports also suggest that these clotting abnormalities may be responsible for some instances of intracranial hemorrhage, porencephaly, cerebral palsy and fetal death.

This study will measure the frequency of several coagulation factor abnormalities (factor V Leiden, prothrombin 20210A, protein C, protein S, antithrombin III, and antiphospholipid antibodies) in children with a history of porencephaly and stroke, and will compare these to the prevalence of these mutations in population controls and family members. We will also describe the exogenous conditions which in concert with these coagulation factors, may have led to the development of thrombosis in these children.

Genders Eligible for Study:  Both

Criteria

INCLUSION CRITERIA:
Children with a history of porencephaly or stroke
1. Children less than 18 years of age with a history of porencephaly and or cerebral infarction (stroke).
2. Children less than 18 years of age with a history of spastic hemiplegic or quadriplegic cerebral palsy with radiographic evidence of stroke or porencephaly.
3. A diagnosis of porencephaly as defined by a fluid-filled cavity within the cerebral hemispheres which may or may not communicate with CSF spaces and confirmed by at least one imaging method including computed tomography (CT), magnetic resonance (MR) and or Doppler ultrasonography.
4. A diagnosis of cerebral infarction (stroke) as defined by a new focal neurologic deficit lasting greater than or equal to 24 hours and presumably due to a vascular process and confirmed by brain imaging, either computed tomography (CT), magnetic resonance (MR) or Doppler ultrasonography.
5. Informed consent of the parent.
6. Informed assent of the child when available.
(INCLUSION CRITERIA)
First-degree relatives of children with proencephaly or stroke
1. Full biological first-degree relatives of children with a history of porencephaly or stroke enrolled in the study.
2. Informed consent of each participant.
3. Informed assent of each participant under 18 years, when available.
(INCLUSION CRITERIA)
Healthy Children
1. Children less than 18 years of age.
2. Informed consent of the Parent.
3. Informed assent of the child when available.
(INCLUSION CRITERIA)
Healthy Mothers
1. Women between 18 and 45 years of age.
2. History of full-term pregnancy
3. Informed consent of the participant.
EXCLUSION CRITERIA
1. Children greater than 18 years of age.
2. Maternal history of cocaine abuse during pregnancy.
3. History of Cancer.
4. History of other chromosomal or metabolic disorder.
5. History of trauma and or child abuse.
6. Isolated subdural hematomas.
7. History of aneurysm or vascular malformations.
8. Congenital heart disease.
9. Sickle cell disease
10. History of CNS infection.
(EXCLUSION CRITERIA)
Healthy Children
1. Children greater than 18 years of age.
2. Maternal history of cocaine abuse during pregnancy.
3. History of cancer.
4. History of other chromosomal or metabolic disorder.
5. History of trauma and or child abuse.
6. Isolated subdural hematomas.
7. History of aneurysm or vascular malformations.
8. Congenital heart disease.
9. Sickle cell disease.
10. History of CNS infection.
11. History of stroke or porencephaly.
(EXCLUSION CRITERIA)
Healthy Mothers
1. Volunteer has biological children without a history of cancer, head trauma, aneurysm, chromosomal or metabolic disorder, congenital heart disease, sickle cell disease, meningitis or encephalitis, or stroke.
2. Cocaine use during pregnancy.

Maryland
      National Institute of Neurological Disorders and Stroke (NINDS), 9000 Rockville Pike,  Bethesda,  Maryland,  20892,  United States; Recruiting

Study ID Numbers:  990045; 99-N-0045
Record last reviewed:  March 10, 2005
Last Updated:  March 29, 2005
Record first received:  November 3, 1999
ClinicalTrials.gov Identifier:  NCT00001927
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08