Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene
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fetal_brain_small_vessel_disea ...
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2021-10-15
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Final Accepted Manuscript
Affiliation
Univ Arizona, Dept Child Hlth, Coll MedUniv Arizona, Dept Radiol, Coll Med
Issue Date
2020-10-15Keywords
COL4A1Fetal brain small vessel disease 1
Fetal stroke
fetus
Hemorrhage
Infarct
Magnetic resonance imaging
Type 4 collagen
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SPRINGERCitation
England, E.C., Cornejo, P., Neilson, D.E. et al. Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene. Pediatr Radiol (2020). https://doi.org/10.1007/s00247-020-04847-2Journal
Pediatric radiologyRights
© Springer-Verlag GmbH Germany, part of Springer Nature 2020Collection Information
This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.Abstract
A singleton fetus was referred to fetal magnetic resonance imaging (MRI) at 25 weeks due to mild ventriculomegaly and an abnormal fetal echocardiogram showing cardiomegaly, right ventricular hypertrophy and tricuspid insufficiency. Patchy areas of ischemic infarction, extensive subacute and chronic hemorrhage not respecting vascular territories, encephaloclastic cysts and closed lip schizencephaly were identified. Cataract was detected postnatally. The anomalies were caused by a pathogenic mutation (c.353 G>A; p.G118D) in the COL4A1 gene. The phenotype seen in this case, i.e. small vessel cerebral disease with or without ocular anomalies caused by COL4A1 mutations, is likely an underrecognized cause of perinatal stroke. The pattern of abnormalities reported herein should prompt strong consideration for diagnosis and molecular testing.Note
12 month embargo; published 15 October 2020ISSN
0301-0449EISSN
1432-1998PubMed ID
33057775Version
Final accepted manuscriptae974a485f413a2113503eed53cd6c53
10.1007/s00247-020-04847-2
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