1. Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene
- Author
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Elizabeth C England, Luís F. Gonçalves, Rashmi P Rao, Patricia Cornejo, and Derek E Neilson
- Subjects
Fetus ,Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Disease ,Tricuspid insufficiency ,medicine.disease ,030218 nuclear medicine & medical imaging ,03 medical and health sciences ,0302 clinical medicine ,Right ventricular hypertrophy ,Pediatrics, Perinatology and Child Health ,medicine ,Radiology, Nuclear Medicine and imaging ,cardiovascular diseases ,Small vessel ,business ,Gene ,030217 neurology & neurosurgery ,Neuroradiology - 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.
- Published
- 2020
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