Research Paper: 2011 Vermeulen

Date Published : 04/05/2011

Summary: Fetal Origin of Brain Damage in 2 Infants with a COL4A1 Mutation: Fetal and Neonatal MRI.

Abstract: Mutations in the gene COL4A1, encoding collagen IV A1, are associated with familial porencephaly. Previously, COL4A1 mutation-associated antena- tal hemorrhages have been suggested by early post-natal imaging. We describe 2 children with fetal intracerebral hemorrhages and a COL4A1 mutation. There was also extensive hemispheric tissue loss in both infants and loss of cerebellar tissue in one infant. This paper show prenatal evidence of fetal hemorrhage in association with a COL4A1 mutation.