Genetic Causes of Cerebrovascular Disorders in Childhood

Abstract

Cerebrovascular disorders in childhood comprise ischemic stroke and hemorrhagic stroke. This thesis comprises a escription of genetic causes of childhood cerebrovascular disorders. Two examples of genetic causes of ischemic stroke, comprising a case of ACTA2 mutation and a review of the neurological findings in incontinentia pigmenti. In addition, genetic causes of childhood hemorrhagic stroke, mainly in the perinatal period, are provided. These comprise descriptions of special phenotypes linked to COL4A1 mutations, i.e. hydranencephaly, anterior segment disorders and a case of putative autosomal recessive inheritance of a COL4A1 mutation. The identification of COL4A2 mutations as a novel cause of porencephaly and small vessel disease is described. In addition, USP18 mutations were identified as novel causes of severe pseudo-TORCH syndrome with cerebral hemorrhage and early demise.