The National Institutes of Health is looking for children with young age of onset strokes, with first stroke occurring after age 3 months. The patients they have seen so far have had recurrent strokes over the years. All have evidence of inflammation with elevated sedimentation rate and C-reactive protein. Most have intermittent fevers and a mottled reddish appearance to their skin (livedo reticularis). Some have other rashes as well and some have joint pain, often misdiagnosed as juvenile arthritis.
Dr. Karyl Barron reports, “We have recently discovered a gene that is mutated in our cohort of patients and are looking for more patients that fit this description. We have a potential therapy that we will be starting soon, based on the known genetic defect. While this is a genetic disease, it is autosomal recessive – meaning the child receives one mutated gene from each parent. People who have only one mutation are asymptomatic – so no family history of childhood strokes is the frequent story we hear. Evaluation and treatment at the National Institutes Health is of no cost to the patient. There is a Children’s Inn on campus where patients and their families can stay.”
Please contact Karyl Barron, MD if you think that your child fits this description. Contact information is below. NIH letter on gene mutation in children with early stroke.
Karyl Barron, MD, Deputy Director, Division of Intramural Research,
National Institute of Allergy and Infectious Diseases
National Institutes of Health, DHHS
Building 33, Room 2N09D
33 North Drive
Bethesda, Maryland 20892
Phone: 301-402-2208
FAX: 301-402-0166
Email: Kbarron@nih.gov
CHASA assists researchers in gathering information that may contribute to scientific and medical knowledge. CHASA does not endorse these studies, but simply provide this information as a courtesy to parents and researchers. Please contact your child’s physician regarding your child’s medical situation.
