A New Cause of Stroke in Young Children

The numerous causes of ischemic stroke in children include embolic sources related to congenital heart disease, hypercoagulable states, and inflammatory conditions. Vascular causes are frequently divided into noninflammatory vasculopathies and inflammatory vasculitis.

Now, researchers have investigated and identified the cause of recurrent fevers and ischemic strokes in five children. The strokes involved the brain stem or deep brain nuclei and occurred before 5 years of age. The researchers performed whole exome sequencing and identified a candidate gene. The gene mutation leads to a deficiency of adenosine deaminase 2 (ADA2). Candidate-gene sequencing identified the mutation in another four children. In addition to fevers and ischemic stro…