Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene
| Autor: | Elizabeth C England, Luís F. Gonçalves, Rashmi P Rao, Patricia Cornejo, Derek E Neilson |
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| Rok vydání: | 2020 |
| Předmět: |
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 |
| Zdroj: | Pediatric Radiology. 51:480-484 |
| ISSN: | 1432-1998 0301-0449 |
| DOI: | 10.1007/s00247-020-04847-2 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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