Long Jian-Yun, Huang Chang-Pin, Wang Lin-Jun, Fang Xin
Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Zhejiang, China.
Affiliated Hangzhou First People's Hospital, Zhejiang University School of Medicine, Zhejiang, China.
Int J Surg Case Rep. 2023 Sep;110:108598. doi: 10.1016/j.ijscr.2023.108598. Epub 2023 Aug 4.
Neurofibromatosis Type 1 (NF1) is a rare autosomal dominant genetic disorder that affects multiple organs and systems, including the nervous system, integumentary system, and connective tissues. Spontaneous hemothorax occurs infrequently in patients with NF1 and is associated with high fatality rates. However, it is commonly overlooked or misdiagnosed.
We present the case of a 29-year-old woman with NF1 who complained of chest pain and was detected with hemothorax on radiographic examination. No bleeding sites were identified following thrombectomy. The patient's condition deteriorated with conservative treatment over nine days, posing a potentially life-threatening risk. After a diagnostic evaluation using computerized tomography angiography (CTA) and digital subtraction angiography (DSA) of the neck vasculature, the patient was diagnosed with spontaneous rupture of the vertebral artery (VA) and subclavian artery (SuA) aneurysm. Following a multidisciplinary discussion and extensive investigations, the patient underwent successful endovascular treatment. A VIABAHN covered stent was implanted in the left SuA to overlay the emergent orifice. The endovascular treatment challenge due to the inaccessible of the proximal of left VA. To prevent retrograde flow into the VA aneurysm, the coils were used to embolize the left VA via the right vertebral artery-basilar artery (VA-BA) passage. The patient was alive at the 5-year follow-up without further complications.
The CTA examination led to the diagnosis of vascular rupture due to NF1, and endovascular treatment was performed to occlude the vascular lumen. There have been no recurrences during the five-year follow-up period.
Vasculopathy is the second leading cause of death in patients with NF1 after malignancy. Early diagnosis of spontaneous hemothorax in patients with NF1 is crucial, as misdiagnosis can result in missed treatment opportunities. CTA plays a vital role in preliminarily diagnosing the cause of spontaneous hemothorax, while endovascular treatment offers a new therapeutic option for such patients.
1型神经纤维瘤病（NF1）是一种罕见的常染色体显性遗传病，可影响多个器官和系统，包括神经系统、皮肤系统和结缔组织。NF1患者中自发性血胸很少见，且病死率高。然而，它常被忽视或误诊。
我们报告一例29岁的NF1女性患者，主诉胸痛，影像学检查发现血胸。血栓切除术后未发现出血部位。经过九天的保守治疗，患者病情恶化，存在潜在生命危险。在对颈部血管进行计算机断层血管造影（CTA）和数字减影血管造影（DSA）诊断评估后，患者被诊断为椎动脉（VA）和锁骨下动脉（SuA）动脉瘤自发性破裂。经过多学科讨论和广泛检查，患者接受了成功的血管内治疗。在左锁骨下动脉植入了一个VIABAHN覆膜支架以覆盖出血口。由于左椎动脉近端难以接近，血管内治疗具有挑战性。为防止血液逆流至椎动脉动脉瘤，通过右椎动脉-基底动脉（VA-BA）通路使用弹簧圈栓塞左椎动脉。患者在5年随访时存活，无进一步并发症。
CTA检查诊断为NF1导致的血管破裂，并进行了血管内治疗以闭塞血管腔。在五年随访期间未出现复发。
血管病变是NF1患者继恶性肿瘤之后的第二大死亡原因。早期诊断NF1患者的自发性血胸至关重要，因为误诊可能导致错过治疗机会。CTA在初步诊断自发性血胸病因方面起着至关重要的作用，而血管内治疗为此类患者提供了一种新的治疗选择。
