Is there a genetic basis for pediatric stroke?

PURPOSE OF REVIEW Childhood: stroke is more common than brain tumor, but because there is a wide spectrum in terms of etiology and most centers see only a few cases every year, there have been few large studies of genetic and environmental risk factors until recently. This review focuses on the clinical and radiologic methodology required to distinguish phenotypes in patients, and it focuses on the available data on genetic predisposition.

A number of conditions with Mendelian inheritance (eg, sickle cell disease) predispose to childhood stroke, but the search for epistatic polymorphisms that explain why some but not all of these patients are affected has been hampered by our poor understanding of the pathophysiology. Emergency vascular imaging, including arteriography and venography, will almost certainly assist with the description of stroke subtypes with different genetic predisposition in these patients and in the important group of children who were completely healthy before their stroke. Environmental exposure (eg, to infection, hypoxemia, and vitamins) may play a crucial role in modifying genetic expression and must be described carefully in prospective studies.

Now that much of the work on classifying stroke subtypes in children has been undertaken, international collaboration is likely to lead to identification of the genetic and environmental risk factors, and thus to primary and secondary prevention.