Periventricular Venous Infarction in an Extremely Premature Infant as the Cause of Schizencephaly

Abstract

Schizencephaly is a disorder of neuronal migration which has been hypothesized to arise from vascular ischemic lesion during the early phase of neuroembryogenesis. We describe a case of a premature boy born at 23 weeks of gestation with neonatal stroke. On the first day of life cranial ultrasonography detected a grade II intraventricular hemorrhage and on day 12 periventricular venous infarction. At the postconceptional age of 40 weeks, magnetic resonance imaging revealed a gray matter–lined cleft, suggesting schizencephaly. We have evidence of the pathogenesis of schizencephaly following vascular ischemic stroke early in neurodevelopment before neuronal migration is completed.

High Prevalence of Collagenopathies in Preterm- and Term-Born Children With Periventricular Venous Hemorrhagic Infarction

“…68 The fact that COL4A1/A2 and COL5A1 pathogenic variants are so prevalent in children with antenatal and presumed antenatal periventricular hemorrhagic infarction/periventricular venous infarction and also in preterm-born children with periventricular hemorrhagic infarction, can be explained by the period of developmental between gestational weeks 24 and 34 when periventricular hemorrhagic infarction/periventricular venous infarction occurs, 3,8,13 as described also in previous studies focusing on antenatal intraventricular hemorrhage and periventricular hemorrhagic infarction cases. 15,16 The median age of the diagnosis of fetal hemorrhage was gestational week 24 (22)(23)(24)(25)(26) in fetuses with COL4A1/A2 variants and gestational week 32 (29.5-34.5) in fetuses without genetic changes. 42 It can be presumed that if the child has a pathogenic variant in COL4A1/A2 or COL5A1, the disruption of the immature fragile vessels and hemorrhage in the germinal matrix is more likely to occur.…”

“… 10 MRI findings suggest that presumed antenatal periventricular venous infarction occurs at a certain stage of vascular development of the brain at gestational weeks 24-34 with germinal matrix hemorrhage as the source. 3 , 8 , 11 , 13 Vascular disruption and development of periventricular hemorrhagic infarction before gestational week 24 can lead to schizencephaly, and after gestational week 24 can lead to porencephaly 19 , 25 – 29 the severity of which depends on the size of initial stroke. Clinically, periventricular hemorrhagic infarction/periventricular venous infarction leads to congenital hemi- or tetraparesis of various severity, epilepsy, and cognitive disability.…”