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 antenatal 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.

Key words

fetal intracerebral hemorrhage - porencephaly - COL4A1

References

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Notice:

This article was changed according to the following erratum on: 15.07.2011

Some of the authors' names of this article were incorrect. The names of the authors should be as follows: Vermeulen, R. J.; Peeters-Scholte, C.; Van Vugt, J. J. M. G.; Barkhof, F.; Rizzu, P.; van der Schoor, S. R. D.; van der Knaap, M. S.:

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