A Pilot Study of Abnormal Acquired and Genetic Coagulation Factors in Children with Porencephaly and Stroke

The National Institutes of Health, the Kennedy Krieger Institute at John Hopkins University and the Childrens Memorial Hospital in Chicago are working together to explore the causes of unexplained childhood stroke, porencephaly and cerebral palsy.

Porencephaly is defined as a cystic cavity (fluid-filled) within the brain and the exact prevalence of porencephaly is not known. The cause of porencephaly is due to either a developmental problem or a stroke that occurs before birth.

Stroke can be defined as an acute neurological problem lasting greater than 24 hours and due to a blockage or rupture of a blood vessel in the brain. The incidence of stroke in children has been reported as high as 3 per 100,000 people but this is probably underestimated. Pediatric stroke occurs more frequently in children less than 2 years of age, and the cause is frequently undetermined. Childhood strokes can seriously affect motor and intellectual development, and lead to the development of spastic cerebral palsy. Additionally, about 20% of children with cerebral palsy have brain-imaging abnormalities suggestive of childhood stroke or porencephaly.

While there are many well-defined risk factors for strokes in adults, very little is known about strokes in children. Many causes have been suspected and there is mounting evidence that genetic clotting factors may be responsible for a portion of childhood strokes. Early diagnosis of the risk factors for stroke in children may lead to a better diagnosis of related genetic disorders within that child's family. This would lead to better counseling and possible prevention of strokes and cerebral palsy.

This study investigates a series of potential risk factors for stroke that include autoimmune, inflammatory and genetic clotting factor abnormalities. By identifying the factors that contribute to childhood stroke, porencephaly and cerebral palsy, researchers hope this study will lay the groundwork for future research projects that will explore potential treatments.

Drs. Karin Nelson and John Kylan Lynch are working together with physicians at the Kennedy Krieger Institute and the Childrens Memorial Hospital to identify patients who meet the medical criteria and who are interested in this study. The study is free to participants and consists of a 30-minute telephone interview/questionnaire and a blood sample. Children must be less than 15 years of age with a history of porencephaly and or stroke.

You may inquire about the study by contacting Dr. John Kylan Lynch at the National Institute of Neurologic Diseases and Stroke, National Institutes of Health, 10 Center Drive, Building 10, Room 5S220, Bethesda, Maryland 20892-1447, email: lynchj@ninds.nih.gov or (301) 496-1187.