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    Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene

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    Thumbnail
    Name:
    fetal_brain_small_vessel_disea ...
    Embargo:
    2021-10-15
    Size:
    144.5Kb
    Format:
    PDF
    Description:
    Final Accepted Manuscript
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    Author
    England, Elizabeth C
    Cornejo, Patricia
    Neilson, Derek E
    Rao, Rashmi P
    Goncalves, Luis F
    Affiliation
    Univ Arizona, Dept Child Hlth, Coll Med
    Univ Arizona, Dept Radiol, Coll Med
    Issue Date
    2020-10-15
    Keywords
    COL4A1
    Fetal brain small vessel disease 1
    Fetal stroke
    fetus
    Hemorrhage
    Infarct
    Magnetic resonance imaging
    Type 4 collagen
    
    Metadata
    Show full item record
    Publisher
    SPRINGER
    Citation
    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/s00247-020-04847-2
    Journal
    Pediatric radiology
    Rights
    © Springer-Verlag GmbH Germany, part of Springer Nature 2020
    Collection 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 2020
    ISSN
    0301-0449
    EISSN
    1432-1998
    PubMed ID
    33057775
    DOI
    10.1007/s00247-020-04847-2
    Version
    Final accepted manuscript
    ae974a485f413a2113503eed53cd6c53
    10.1007/s00247-020-04847-2
    Scopus Count
    Collections
    UA Faculty Publications

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