■1型神经纤维瘤病(NF1)是一种罕见的常染色体显性遗传障碍,会影响多个器官和系统,包括神经系统,外皮系统,和结缔组织。NF1患者很少发生自发性血胸,并伴有高致死率。然而,常被忽视或误诊。
方法:我们介绍了一例29岁的NF1女性患者,主诉胸痛并在影像学检查中发现血胸。血栓切除术后未发现出血部位。经过9天的保守治疗,患者病情恶化,有可能危及生命.在使用颈部血管的计算机断层扫描血管造影(CTA)和数字减影血管造影(DSA)进行诊断评估后,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。经过多学科的讨论和广泛的调查,患者接受了成功的血管内治疗.在左侧SuA中植入VIABAHN覆膜支架以覆盖出现的孔口。由于左VA近端无法进入,因此血管内治疗面临挑战。为了防止逆行流入VA动脉瘤,线圈用于通过右椎动脉-基底动脉(VA-BA)通道栓塞左VA。患者在5年的随访中存活,没有进一步的并发症。
■CTA检查导致诊断为NF1引起的血管破裂,并进行了血管内治疗以闭塞血管腔。在五年的随访期间没有复发。
结论:血管病变是NF1患者恶性肿瘤后的第二大死亡原因。NF1患者自发性血胸的早期诊断至关重要,误诊会导致错过治疗机会。CTA在自发性血胸病因的初步诊断中起着至关重要的作用。而血管内治疗为此类患者提供了新的治疗选择。
UNASSIGNED: 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.
METHODS: 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.
UNASSIGNED: 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.
CONCLUSIONS: 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.