Monogenic Causes of Cerebrovascular Disease in Childhood: A Case Series

Despite an increase in the number of genes associated with pediatric stroke, imaging phenotypes in children have not been well reported. Guidelines are needed to facilitate the identification and treatment of patients with monogenic causes of cerebrovascular disorders. We performed a retrospective review of imaging and medical records of patients aged zero to 21 years with monogenic causes of vascular malformations, small or large vessel disease, transient ischemic attacks, and/or ischemic or hemorrhagic stroke. We classified patients according to their imaging phenotype and reviewed neurological and systemic features and management strategies. We reviewed the literature to identify genes associated with cerebrovascular disorders presenting in childhood. We identified 18 patients with monogenic causes of cerebrovascular disorders and classified each patient as belonging to one or more of three cerebrovascular phenotypes according to predominant imaging characteristics: small vessel disease, large vessel disease, and/or vascular malformations. Preventative treatments included aspirin, N-acetylcysteine, tocilizumab, therapeutic low-molecular-weight heparin, and resection of vascular malformations. Classifying pediatric patients with cerebrovascular disorders by imaging phenotype can aid in determining the next steps in genetic testing and treatment.