Published online Jun 26, 2022. doi: 10.12998/wjcc.v10.i18.6277
Peer-review started: January 13, 2022
First decision: March 23, 2022
Revised: April 1, 2022
Accepted: April 27, 2022
Article in press: April 27, 2022
Published online: June 26, 2022
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.
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.Asp473Val) gene.
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.
Core Tip: Brain arteriovenous malformation (AVM) is one of the main causes of spontaneous cerebral hemorrhage in children. At present, the mechanism of the occurrence and development of AVM is not clear, and there have been very few case reports that have documented the progression of a de novo brain AVM. In this report, we present the case of a child with a de novo brain AVM. Brain AVM was first detected in this child at the age of 7 years and 4 mo and was significantly advanced and hemorrhaging at the age of 12 years and 8 mo. Genetic analysis of this patient revealed a mutation in the NOTCH2 (p.Asp473Val) gene.