Neuropediatrics 2011; 42(1): 1-3
DOI: 10.1055/s-0031-1275343
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© Georg Thieme Verlag KG Stuttgart · New York

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

R. J. Vermeulen1 , C. Peeters-Scholte1 , 6 , J. J. M. G. Van Vugt2 , F. Barkhof3 , P. Rizzu4 , S. R. D. van der Schoor5 , M. S. van der Knaap1
  • 1Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands
  • 2Department of Obstetrics and Gynecology, VU University Medical Center, Amsterdam, The Netherlands
  • 3Department of Radiology, VU University Medical Center, Amsterdam, The Netherlands
  • 4Department of Clinical and Human Genetics, Section Medical Genomics, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands
  • 5Department of Neonatology, VU University Medical Center, Amsterdam, The Netherlands
  • 6Current address: Department of Pediatric Neurology, Leids University Medical Center, Leiden, The Netherlands
Further Information

Publication History

received 08.07.2011

accepted 09.03.2011

Publication Date:
15 April 2011 (online)

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.

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.:

Correspondence

Assoc. Prof. R. Jeroen VermeulenMD, PhD 

Department of Child Neurology

VU University Medical Center

De Boelelaan 1117

1081HV Amsterdam

The Netherlands

Phone: +31/20/444 4856

Fax: +31/20/444 0849

Email: rj.vermeulen@vumc.nl