Sudden death caused by ruptured brain arteriovenous malformation in an adolescent with autism spectrum disorder

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.