Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene
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CASE REPORT
Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene Elizabeth C. England 1 & Patricia Cornejo 2,3,4,5,6 & Derek E. Neilson 2,3 & Rashmi P. Rao 2,3 & Luis F. Goncalves 2,3,4,5,6 Received: 8 May 2020 / Revised: 10 August 2020 / Accepted: 8 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
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. Keywords COL4A1 . Fetal brain small vessel disease 1 . Fetal stroke . Fetus . Hemorrhage . Infarct . Magnetic resonance imaging . Type 4 collagen
Introduction Perinatal stroke, defined as stroke occurring between 20 weeks of gestation and 28 days of postnatal life, has an estimated incidence of 1 in 2,200 live births. The incidence of fetal stroke is likely higher as many affected pregnancies may result in intrauterine fetal demise or termination. Fetal strokes may be caused by hemorrhage, ischemia, thrombosis or a
* Luis F. Goncalves [email protected] 1
Creighton University, Phoenix, AZ, USA
2
Department of Radiology, Phoenix Children’s Hospital, 1919 E. Thomas Rd., Phoenix, AZ 85016, USA
3
Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ, USA
4
Department of Radiology, University of Arizona College of Medicine, Phoenix, AZ, USA
5
Department of Radiology, Mayo Clinic, Phoenix, AZ, USA
6
Department of Radiology, Creighton University, Phoenix, AZ, USA
combination thereof. The most commonly identified etiologies for confirmed fetal stroke are fetal/neonatal alloimmune thrombocytopenia and maternal trauma. Other etiologies include (1) maternal conditions (e.g., diabetic ketoacidosis, warfarin use, maternal fever with gastroenteritis, antiepileptic medication, maternal drug use such as cocaine); (2) pregnancy-related disorders (e.g., placental hemorrhage and thrombosis, placental abruption, twin-to-twin transfusion syndrome) and (3) fetal infections, genetic and metabolic conditions (e.g., TORCH [toxoplasmosis, other (syphilis, varicellazoster, parovirus B19), rubella, cytomegalovirus and herpes] infections, pyruvate decarboxylase deficiency, pyruvate dehydrogenase deficiency, protein-C deficiency). Unfortunately, the etiology of fetal strokes remains unknown in approx
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