Liang Yue, Tong Fang, Zhang Lin, Li Wenhe, Zhou Yiwu
Department of Forensic Medicine, Huazhong University of Science and Technology, Tongji Medical College, No. 13 Hangkong Road, Hankou, Wuhan 430030, PR China.
Leg Med (Tokyo). 2016 Jul;21:33-7. doi: 10.1016/j.legalmed.2016.05.004. Epub 2016 May 18.
Vascular involvement is a well-recognized manifestation of neurofibromatosis type 1 (NF1) which has the potential to be fatal when disrupted. We here present a case of sudden death due to the fatal arterial rupture resulted from infiltration of the neurofibromas. A 42-year-old man who suffered from NF1 presented a 1-h history of sudden onset of pain in his right cervical region. His condition worsened and became unconscious on his way to the emergency room. Despite resuscitation efforts, he died 30min later without regaining consciousness. Autopsy examination showed that a neurofibroma located around the right internal carotid artery, confirmed immunohistochemically with S-100, vimentin and CD34. Furthermore, proliferation of spindle cells positive for S-100 was seen in the wall of right internal carotid artery, which was disrupted and resulted in a hemorrhage. These findings suggest that the artery was disrupted by neurofibromas in the vascular wall, which led to fragility of the vessel. On the basis of these findings, we concluded that the cause of death was asphyxia resulting from airway obstruction compressed by the hematoma due to the arterial rupture. As the locality of the neurofibroma and hemorrhage were closed to the carotid baroreflex, we considered another possible mechanism of his sudden death, which could be cardiac inhibition induced by vagal stimulation. We hope this case will increase recognition of NF-1 vasculopathy when encountering any sudden death in NF1 patients.
血管受累是1型神经纤维瘤病（NF1）一种公认的表现形式，一旦血管受累被破坏，就有可能致命。我们在此报告一例因神经纤维瘤浸润导致致命性动脉破裂而猝死的病例。一名患有NF1的42岁男性出现右侧颈部突发疼痛1小时的病史。在前往急诊室的途中，他的病情恶化并失去意识。尽管进行了复苏努力，但他30分钟后仍未恢复意识而死亡。尸检显示，一个神经纤维瘤位于右颈内动脉周围，经S-100、波形蛋白和CD34免疫组化证实。此外，在右颈内动脉壁可见S-100阳性的梭形细胞增殖，动脉壁破裂并导致出血。这些发现表明动脉被血管壁内的神经纤维瘤破坏，导致血管脆弱。基于这些发现，我们得出结论，死亡原因是动脉破裂形成的血肿压迫气道导致窒息。由于神经纤维瘤和出血的位置靠近颈动脉压力反射，我们考虑了他猝死的另一种可能机制，即迷走神经刺激引起的心脏抑制。我们希望这个病例能提高在遇到NF1患者猝死时对NF-1血管病变的认识。
