title: 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.affiliation: Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands. rj.vermeulen@vumc.nl
authors.forename: R J
authors.initials: RJ
authors.lastname: Vermeulen
authors.forename: C
authors.initials: C
authors.lastname: Peeters-Scholte
authors.forename: J J M
authors.initials: JJ
authors.lastname: Van Vugt
authors.forename: J J M G
authors.initials: JJ
authors.lastname: Van Vught
authors.forename: F
authors.initials: F
authors.lastname: Barkhof
authors.forename: P
authors.initials: P
authors.lastname: Rizzu
authors.forename: S R D
authors.initials: SR
authors.lastname: van der Schoor
authors.forename: M S
authors.initials: MS
authors.lastname: van der Knaap
mesh_terms: D001921:Brain / Q000473:pathology; D002543:Cerebral Hemorrhage / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV