BACKGROUND Brain arteriovenous malformation(AVM),an aberrant vascular development during the intrauterine period,is traditionally considered a congenital disease.Sporadic reports of cases of de novo AVM formation in c...BACKGROUND Brain arteriovenous malformation(AVM),an aberrant vascular development during the intrauterine period,is traditionally considered a congenital disease.Sporadic reports of cases of de novo AVM formation in children and adults have challenged the traditional view of its congenital origin.CASE SUMMARY In this report,we have presented the case of a child with a de novo brain AVM.Magnetic resonance imaging and magnetic resonance angiography of the brain showed no AVM at the age of 5 years and 2 mo.Brain AVM was first detected in this child at the age of 7 years and 4 mo.The brain AVM was significantly advanced,and hemorrhage was seen for the first time at the age of 12 years and 8 mo.There was further progression in the AVM,and hemorrhage occurred again at the age of 13 years and 5 mo.Genetic analysis of this patient revealed a mutation in the NOTCH2(p.Asp473 Val)gene.CONCLUSION In short,our case has once again confirmed the view that brain AVM is an acquired disease and is the result of the interaction of genes,environment,and molecules.展开更多
基金Supported by the Science and Technology Program of Wenzhou,China,No.Y20190145 to Huan Huangthe Beijing New Health Industry Development Foundation,No.XM2020-02-002 to Bo Yin。
文摘BACKGROUND Brain arteriovenous malformation(AVM),an aberrant vascular development during the intrauterine period,is traditionally considered a congenital disease.Sporadic reports of cases of de novo AVM formation in children and adults have challenged the traditional view of its congenital origin.CASE SUMMARY In this report,we have presented the case of a child with a de novo brain AVM.Magnetic resonance imaging and magnetic resonance angiography of the brain showed no AVM at the age of 5 years and 2 mo.Brain AVM was first detected in this child at the age of 7 years and 4 mo.The brain AVM was significantly advanced,and hemorrhage was seen for the first time at the age of 12 years and 8 mo.There was further progression in the AVM,and hemorrhage occurred again at the age of 13 years and 5 mo.Genetic analysis of this patient revealed a mutation in the NOTCH2(p.Asp473 Val)gene.CONCLUSION In short,our case has once again confirmed the view that brain AVM is an acquired disease and is the result of the interaction of genes,environment,and molecules.
