D'Errico Stefano, Martelloni Massimo, Cafarelli Francesco Pio, Guglielmi Giuseppe
Department of Legal Medicine, Azienda USL Toscana Nordovest, Lucca, Italy.
Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Viale L. Pinto, 1, 71121, Foggia, Italy.
Forensic Sci Med Pathol. 2018 Sep;14(3):377-380. doi: 10.1007/s12024-018-0001-z. Epub 2018 Jun 20.
Type 1 neurofibromatosis (NF 1), a rare genetic disease with autosomal dominant transmission, has typical dermatologic manifestations with pathognomonic Lisch nodules, and is rarely known for vascular alterations. Among these, aneurysmal dilatation is the most common form. We report a fatal case of massive hemothorax due to a spontaneous rupture of the left pulmonary artery branch micro-aneurysm in a NF 1 patient. Indeed, spontaneous rupture of these pathologic vessels is very rare in clinical practice and the literature, but, for its potentially life-threatening complications, there is the need for it to be taken into account in differential diagnosis. The origin of bleeding was first confirmed by computed tomography angiography (CTA). The patient's condition worsened suddenly leading to pulmonary hemorrhage and death. A clinical autopsy was required to assess the definitive cause of death.
1型神经纤维瘤病（NF 1）是一种罕见的常染色体显性遗传病，具有典型的皮肤表现，伴有特征性的Lisch结节，而血管改变则鲜为人知。其中，动脉瘤样扩张是最常见的形式。我们报告了1例NF 1患者因左肺动脉分支微动脉瘤自发破裂导致大量血胸的致死病例。事实上，这些病理性血管的自发破裂在临床实践和文献中非常罕见，但由于其可能危及生命的并发症，在鉴别诊断中需要考虑到这一点。出血的起源首先通过计算机断层扫描血管造影（CTA）得以证实。患者病情突然恶化，导致肺出血和死亡。需要进行临床尸检以评估确切的死亡原因。
