Introduction And Importance: 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.
Case Presentation: 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.
Clinical Discussion: 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.
Conclusion: 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436176 | PMC |
| http://dx.doi.org/10.1016/j.ijscr.2023.108598 | DOI Listing |
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Article Synopsis
- - Neurofibromatosis type 1 (NF1) is a common genetic disorder that primarily causes neurofibromas and various vascular issues, such as aneurysms and arterial stenosis.
- - A 45-year-old male with NF1 experienced a rare tension hemothorax caused by bleeding from the left costocervical artery, which is typically linked to trauma or aortic aneurysms.
- - The patient was successfully treated with chest drainage and transcatheter arterial embolization (TAE) to manage the bleeding, highlighting the need for clinicians to consider potential non-traumatic complications in NF1 patients.
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