Department of Pathology and Laboratory Medicine, University of North Carolina Chapel Hill, Chapel Hill, North Carolina, USA.
Pathology Department, State University at New York (SUNY) University at Buffalo, Buffalo, New York, USA.
J Forensic Sci. 2022 Jul;67(4):1734-1738. doi: 10.1111/1556-4029.15024. Epub 2022 Mar 5.
Brain arteriovenous malformations (bAVMs) are infrequent disorders in the pediatric population. The rupture of a bAVM is a clinical emergency often followed by death. Autism spectrum disorder shares a number of symptoms with AVM malformation; this may impede antemortem diagnosis. An 11-year-old boy with autism spectrum disorder (ASD) without other medical history died suddenly. Initially, choking on a peanut butter sandwich was suspected; autopsy did not demonstrate aspiration, but identified a ruptured right cerebellar AVM, with the characteristic tortuous vessels. The histology on the lesion confirmed the presence of arterialized veins and showed gliotic tissue and hemosiderin-laden macrophages, consistent with prior bleeding. BAVM pathogenesis is unknown; congenital disease may have several mechanisms including genetic predisposition and familial risk factors; development de novo may occur after hemorrhagic intracranial events such as surgical intervention and head trauma. ASD may present with overlapping symptoms of bAVM and may also interfere with expressing subtle neurologic symptoms to caretakers. ASD and AVM are rarely reported in association.
脑动静脉畸形（bAVMs）在儿科人群中较为少见。bAVM 的破裂是一种临床急症，常导致死亡。自闭症谱系障碍与 AVM 畸形有许多共同的症状；这可能会妨碍生前诊断。一名 11 岁自闭症谱系障碍（ASD）男孩，无其他病史，突然死亡。最初怀疑是被花生酱三明治噎到；尸检未发现吸入物，但发现右侧小脑有一处破裂的 AVM，伴有特征性的扭曲血管。病变的组织学证实了动脉化静脉的存在，并显示出胶质组织和含铁血黄素巨噬细胞，符合先前的出血。bAVM 的发病机制尚不清楚；先天性疾病可能有几种机制，包括遗传易感性和家族危险因素；新发病例可能发生在颅内出血事件后，如手术干预和头部外伤。ASD 可能表现出与 bAVM 重叠的症状，也可能会干扰向护理人员表达微妙的神经症状。ASD 和 AVM 很少同时出现。
