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.

• Authors: R J Vermeulen, C Peeters-Scholte, J J M Van Vugt, J J M G Van Vught, F Barkhof, P Rizzu, S R D van der Schoor, M S van der Knaap
• Journal: Neuropediatrics (Neuropediatrics) Vol. 42 Issue 1 Pg. 1-3 (Feb 2011) ISSN: 1439-1899 [Electronic] Germany
• PMID: 21500141 (Publication Type: Journal Article)
• Copyright: © Georg Thieme Verlag KG Stuttgart · New York.

Chemical References

• COL4A1 protein, human
• Collagen Type IV

Topics

• Brain (pathology)
• Cerebral Hemorrhage (etiology, genetics, pathology)
• Collagen Type IV (genetics)
• Female
• Humans
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Mutation (genetics)