Abu-El-Rub Hadeel, Shatnawi Rashed, AbuZetun Yahia I, Ghorab Doaa, Shotar Ali M
Yarmouk University, Forensic Medicine and Toxicology Unit, Department of Clinical Sciences, Faculty of Medicine, Irbid, Jordan.
Mansoura University, Pathology Department, Faculty of Medicine, Mansoura, Egypt.
Autops Case Rep. 2024 May 22;14:e2024489. doi: 10.4322/acr.2024.489. eCollection 2024.
Pulmonary arteriovenous malformations (PAVMs) are abnormal vascular connections between pulmonary arteries and veins, often associated with hereditary hemorrhagic telangiectasia (HHT). Most PAVMs are asymptomatic, but life-threatening complications like pulmonary hemorrhage, brain abscesses, and paradoxical emboli can emerge, so prompt diagnosis and treatment are crucial. We report a case of sudden pediatric death in a two-year-old female with no past medical history. Initial vomiting and fast deterioration resulted in a sudden cardiac arrest. The postmortem examination found histological evidence of consistent, extensive lung damage. The absence of the characteristic symptoms made for some challenges when it came to diagnosis, showing precisely that in early life, you could well have many difficulties in catching PAVMs. This case highlights the need to take PAVMs into account as a potential cause of sudden death, particularly when there are no conspicuous symptoms. Awareness among forensic pathologists and consideration of genetic analysis for HHT in such cases is crucial for accurate diagnosis and management.
肺动静脉畸形(PAVM)是肺动脉和静脉之间的异常血管连接,常与遗传性出血性毛细血管扩张症(HHT)相关。大多数PAVM无症状,但可能出现危及生命的并发症,如肺出血、脑脓肿和反常栓塞,因此及时诊断和治疗至关重要。我们报告一例两岁女性儿科猝死病例,该患儿既往无病史。最初出现呕吐并迅速恶化,导致心脏骤停。尸检发现了持续广泛肺损伤的组织学证据。由于缺乏特征性症状,诊断存在一定挑战,这恰恰表明在生命早期,发现PAVM可能会有诸多困难。该病例凸显了将PAVM视为猝死潜在原因的必要性,尤其是在没有明显症状的情况下。法医病理学家对此的认识以及在此类病例中考虑对HHT进行基因分析,对于准确诊断和管理至关重要。