Huang Huan, Wang Xue, Guo An-Na, Li Wei, Duan Ren-Hua, Fang Jun-Hao, Yin Bo, Li Dan-Dong
Department of Radiology, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China.
Department of Neurosurgery, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou 325000, Zhejiang Province, China.
World J Clin Cases. 2022 Jun 26;10(18):6277-6282. doi: 10.12998/wjcc.v10.i18.6277.
Brain arteriovenous malformation (AVM), an aberrant vascular development during the intrauterine period, is traditionally considered a congenital disease. Sporadic reports of cases of 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 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 (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.
脑动静脉畸形（AVM）是胎儿期异常的血管发育，传统上被认为是一种先天性疾病。儿童和成人中偶发的AVM形成病例报告对其先天性起源的传统观点提出了挑战。
在本报告中，我们展示了一名患有脑AVM的儿童病例。该儿童5岁2个月时的脑部磁共振成像和磁共振血管造影未显示AVM。首次在该儿童7岁4个月时检测到脑AVM。脑AVM显著进展，首次出血发生在12岁8个月时。AVM进一步进展，13岁5个月时再次出血。对该患者的基因分析显示（p.Asp473Val）基因发生突变。
简而言之，我们的病例再次证实了脑AVM是一种后天性疾病，是基因、环境和分子相互作用的结果这一观点。
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