Document Detail


Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI.
MedLine Citation:
PMID:  21500141     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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
Publication Detail:
Type:  Journal Article     Date:  2011-04-15
Journal Detail:
Title:  Neuropediatrics     Volume:  42     ISSN:  1439-1899     ISO Abbreviation:  Neuropediatrics     Publication Date:  2011 Feb 
Date Detail:
Created Date:  2011-05-10     Completed Date:  2011-09-08     Revised Date:  2011-10-30    
Medline Journal Info:
Nlm Unique ID:  8101187     Medline TA:  Neuropediatrics     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1-3     Citation Subset:  IM    
Copyright Information:
© Georg Thieme Verlag KG Stuttgart · New York.
Affiliation:
Department of Child Neurology, VU University Medical Center, Neuroscience Campus Amsterdam, Amsterdam, The Netherlands. rj.vermeulen@vumc.nl
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Brain / pathology
Cerebral Hemorrhage / etiology,  genetics*,  pathology*
Collagen Type IV / genetics*
Female
Humans
Infant, Newborn
Magnetic Resonance Imaging
Male
Mutation / genetics*
Chemical
Reg. No./Substance:
0/COL4A1 protein, human; 0/Collagen Type IV
Comments/Corrections
Erratum In:
Neuropediatrics. 2011 Apr;42(2):e1
Note: Van Vught, J J M G [corrected to Van Vugt, J J M]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Methylphenidate-Induced Visual Hallucinations.
Next Document:  High Prevalence of Short-Chain Acyl-CoA Dehydrogenase Deficiency in the Netherlands, but No Associat...