Abstract：
A 28-year-old male was found dead in his bedroom. There were no anomalies in his birth and medical history, and there was no family history of sudden unexpected death (SUD). Autopsy showed subarachnoid hemorrhage (SAH) with basilar top inflammatory pseudoaneurysm rupture accompanied by fibrinoid necrosis in the aneurysm wall. Active and healed arteritides in small- to medium-sized arteries were identified in the brain, heart, and systemic connective tissue, which was consistent with polyarteritis nodosa (PAN). Furthermore, pneumatosis cystoides intestinalis was observed in the ascending colon. Hepatitis B virus infection and antineutrophil nuclear antibodies were negative. Genetic investigation using whole-exome sequencing showed no mutations among autoinflammatory-related genes, including UBA1, MEFV, and ADA2. SAH due to rupture of a pseudoaneurysm formed by PAN was considered as the cause of death in the present case. Although myocardial ischemia linked to coronary arteritis is a recognized trigger for SUD in PAN, our study showed that rupture of inflammatory pseudoaneurysm in the cerebral artery can also cause SUD in younger subjects with PAN, even if prodromal symptoms are not evident before death.
摘要：
一名28岁的男性被发现死在他的卧室里。他的出生和病史没有异常，并且没有突发性猝死（SUD）的家族史。尸检显示蛛网膜下腔出血（SAH）伴基底顶部炎性假性动脉瘤破裂，并伴有动脉瘤壁的纤维蛋白样坏死。在大脑中发现了中小型动脉中活跃和愈合的动脉，心,和全身结缔组织，与结节性多动脉炎（PAN）一致。此外，在升结肠中观察到肠囊虫肺炎。乙型肝炎病毒感染和抗中性粒细胞核抗体均为阴性。使用全外显子组测序的遗传调查显示，自身炎症相关基因中没有突变，包括UBA1，MEFV，ADA2。在本案中，由于PAN形成的假性动脉瘤破裂而导致的SAH被认为是死亡原因。尽管与冠状动脉炎相关的心肌缺血是PAN中SUD的公认触发因素，我们的研究表明，脑动脉的炎性假性动脉瘤破裂也可以导致年轻的PAN受试者的SUD，即使前驱症状在死前不明显。
