Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene
AffiliationUniv Arizona, Dept Child Hlth, Coll Med
Univ Arizona, Dept Radiol, Coll Med
Fetal brain small vessel disease 1
Magnetic resonance imaging
Type 4 collagen
MetadataShow full item record
CitationEngland, 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
Rights© Springer-Verlag GmbH Germany, part of Springer Nature 2020.
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AbstractA 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.
Note12 month embargo; published 15 October 2020
VersionFinal accepted manuscript
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