Case Report
Extracranial Internal Carotid Artery Pseudoaneurysm Associated With Neurofibromatosis Type 1 Treated With Endovascular Stenting and Coil Embolization
Vascular and Endovascular Surgery 2014, Vol 48(2) 176-179 ª The Author(s) 2013 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/1538574413510623 ves.sagepub.com
Osamu Hamasaki, MD1, Fusao Ikawa, MD1, Toshikazu Hidaka, MD1, Yasuharu Kurokawa, MD1, and Ushio Yonezawa, MD1
Abstract An internal carotid artery (ICA) pseudoaneurysm associated with neurofibromatosis type 1 (NF-1) is rare. We report the first case of unruptured extracranial pseudoaneurysm of the ICA in a patient with NF-1 successfully treated with endovascular stenting and coil embolization.A 66-year-old woman diagnosed with NF-1 had sudden left neck pain and massive swelling 3 years earlier. Radiological examination showed a ruptured pseudoaneurysm of the left internal thoracic artery (ITA). The posttreatment computed tomography (CT) scan revealed complete obliteration of the aneurysm of the left ITA and an unruptured pseudoaneurysm of the right ICA. After 3 years of follow-up, a CT scan revealed the enlargement of the pseudoaneurysm of the right extracranial ICA. Endovascular stenting and coil embolization were performed to prevent rupture, and the lesion was completely obliterated. Follow-up angiography at 6 months revealed good flow of the ICA through the stent without any filling of the aneurysm. Keywords internal carotid artery, pseudoaneurysm, neurofibromatosis type 1, coil embolization, stenting
Introduction Neurofibromatosis type 1 (NF-1) is a rare autosomal dominant neurocutaneous genetic disorder, affecting 1 in 3000 to 4000 individuals, with the cardinal features of cafe´ au lait macules, benign neurofibromas, and iris hamartomas.1Vascular abnormalities, mostly in the form of aneurysms or stenosis, affect medium and large vessels and are recognized manifestations of NF-1; these vascular lesions are reported to occur in 0.41% to 6.4% of the patients.2 The renal artery is most frequently involved, but abdominal aortic coarctation, internal carotid artery (ICA) aneurysms, and vertebral arteriovenous malformations have also been reported. Although rare, carotid artery aneurysms often present with life-threatening spontaneous rupture or neurological complications. The pathogenesis and natural history of these vascular lesions remain unknown. Here, we report the first case of unruptured extracranial pseudoaneurysm of the ICA in a patient with NF-1 successfully treated with endovascular stenting and coil embolization.
Case Report A 66-year-old woman diagnosed with NF-1 and presenting with the features of cafe´ au lait macules and benign neurofibromas
had sudden left neck pain and massive swelling 3 years earlier. She received endotracheal intubation in the emergency department of our hospital. Computed tomography (CT) scan with contrast medium showed a pseudoaneurysm of the left internal thoracic artery (ITA) and cervical hematoma. Subsequent angiography also showed the ruptured pseudoaneurysm. The patient received continuous endovascular treatment with coil embolization to prevent rebleeding. The posttreatment CT scan revealed complete obliteration of the aneurysm of the left ITA and an unruptured pseudoaneurysm of the right ICA (Figure 1A). The patient was discharged without any symptoms and attended our hospital for follow-up because of the unknown natural history of unruptured pseudoaneurysm of the ICA associated with NF-1. After 3 years of follow-up, she had no neck pain or neurological deficits. However, a CT scan revealed the enlargement of the
1
Department of Neurosurgery, Shimane Prefectural Central Hospital, Izumo, Japan Corresponding Author: Osamu Hamasaki, Department of Neurosurgery, Shimane Prefectural Central Hospital, 4-1-1 Himebara, Izumo, Shimane 693-8555, Japan. Email: [email protected]
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
Hamasaki et al
177 ICA, jailing the previous microcatheters in the aneurysm (Figure 1C). We used the Axium detachable coil system (ev3 Covidien, Irvine, California) to occlude the aneurysm. A total of 18 detachable coils were deployed into the aneurysm using the double catheter technique until the aneurysm was completely obliterated (Figure 1D). No neurological complications were observed, and the procedure was completed successfully. The patient was maintained on 100 mg aspirin and 200 mg cilostazol 6 months after the procedure. Follow-up angiography at 6 months revealed good flow of the ICA through the stent without any filling of the aneurysm.
Discussion
Figure 1. CT scan (A) with contrast medium at post-treatment of internal thoracic artery aneurysm showing a pseudoaneurysm of extracranial internal carotid artery. After 3 years of follow-up, preoperative angiogram (B) revealing the enlargement of the pseudoaneurysm of extracranial internal carotid artery. Cone beam CT scan (C) showing stent and jailed microcatheters. Postembolization angiogram (D) revealed no aneurysm. CT indicates computed tomography.
pseudoaneurysm of the right ICA. We decided to treat the pseudoaneurysm using a stent and coils to prevent rupture. The patient was premedicated with 100 mg aspirin and 200 mg cilostazol 7 days before treatment. Endovascular treatment was performed under local anesthesia. An Optimo 9F guiding catheter (Tokai medical products, Aichi, Japan) was then guided into the right cervical ICA. Baseline activated clotting time (ACT) was measured, and the patient was administered systemic anticoagulation with intravenous heparin (70 U/kg) to achieve an ACT of 250 to 300 seconds, which was maintained throughout the procedure. Dome size of the aneurysm was 14 11 12 mm, and the neck size was 6 mm (Figure 1B). A Prowler select plus 2.3F microcatheter (Codman Neuroendovascular, Johnson & Johnson, Miami, Florida) was then advanced over a 0.016-in GT microguidewire (Termo, Tokyo, Japan) into the normal distal artery 2.5 to 3.0 cm beyond the aneurysm. Double Excelsior SL-10 microcatheters (Stryker, Kalmazoo, Michigan) were advanced over a CHIKAI 0.014-in microguidewire (Asahi-intecc, Aichi, Japan) into both the outflow zone of the neck and the central portion of the dome. An Enterprise VRD 4.5 28-mm stent (Codman Neuroendovascular, Johnson & Johnson) was then deployed in the
Neurofibromatosis type 1 is caused by mutations of the NF-1 gene located on chromosome 17q11.2.3 The protein product of the NF-1 gene is neurofibromin. Thus, neurofibromin deficiency may be linked to NF-1 vasculopathy. The main hypothesis proposed by Riccardi4 is that the vasculopathy is caused by the alteration in the normal process of vascular maintenance and repair regulated by neurofibromin. Vascular abnormalities (eg, arterial stenoses and aneurysms) in patients with NF-1 occur via a dynamic process of cellular proliferation, degeneration, healing, smooth muscle loss, and fibrosis.5 Vascular endothelial and smooth muscle cells express neurofibromin. The prevalence of vascular abnormalities associated with NF-1 is 0.4% to 6.4%.2 Most patients with NF-1-related vascular abnormalities are asymptomatic, but multiple vessels are involved in the abnormality. The NF-1 vasculopathy has been coined to describe vascular abnormalities that involve medium-, large-, and small-size arteries and veins in patients with NF-1.2,6 The most common clinical presentation is difficult to control hypertension associated with renal artery stenosis in the childhood.2,7 Oderich et al2 reviewed 76 vascular abnormalities in 31 patients with NF-1. Arterial lesions were located in the aorta (n ¼ 17 lesions), renal artery (n ¼ 12), mesenteric artery (n ¼ 12), carotid-vertebral artery (n ¼ 10), intracerebral artery (n ¼ 4), subclavian-axillary artery (n ¼ 3), and iliofemoral artery (n ¼ 3). The ICA aneurysms occurred only in 4 (5.2%) of 76 vascular abnormalities. Furthermore, Oderich et al2 reviewed 237 patients with NF-1, with 320 vascular abnormalities, in the English literature. Renal artery lesions were the most common (41%) and were more often stenotic than aneurysmal. Lesions affecting the carotid, vertebral, or cerebral artery (19% of patients) were commonly aneurysms. In addition, the authors reviewed 30 ICA aneurysms in 29 patients with NF-1 from the English literature between 1957 and 2005. The most common cause of death in patients with NF-1 is malignancy; however, in patients younger than 40 years, vascular disease and hypertension are the second leading causes of death.2,8 The ICA aneurysms in patients with NF-1 are often associated with spontaneous rupture and bleeding, with pregnancy reported as a strong predisposing factor. Sobata et al9 reported a case of a ruptured intracranial ICA aneurysm in a 28-year-old woman that occurred immediately after delivery.
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Vascular and Endovascular Surgery 48(2)
Table 1. Summary of Patients With Extracranial Internal Carotid Artery Aneurysms Associated With Neurofibromatosis Type 1. Series (ref no.)
Age/Sex Side
Symptom
Ruptured Treatment
Outcome
Asymptomatic Spontaneous rupture Aneurysm (ECA aneurysm rupture) Stroke and rupture
No Yes No Yes
Alive Dead Alive Alive
Frank et al11 Shibuya et al10 Smith et al7 Ku et al12
18/M 33/F 28/F 28/F
Right Left Left Bilateral
Onkendi et al13 You et al14 Present case
42/F 17/M 66/F
Right Expanding mass Bilateral Asymptomatic Right Aneurysm growth (ITA aneurysm rupture)
No No No
Conservative Surgery, not stopped bleeding Stent graft Left sacrifice, right endovascular trapping Surgery (excision and bypass) Conservative Stenting and coil embolization
Alive Alive Alive
Abbreviations: ECA, external carotid artery; F, female; ITA, internal thoracic artery; M, male.
Shibuya et al10 reported a case of a ruptured extracranial ICA aneurysm in a 33-year-old woman, 9 days postpartum. Smith et al7 also reported a case of a ruptured extracranial ICA aneurysm in a 28-year-old woman, 10 days postpartum. A total of 7 cases of extracranial ICA pseudoaneurysms in patients with NF-1, including the present case (Table 1), have been reported in the literature.7,10-14 The mean age at the time of diagnosis was 33.1 years (range 17-66 years). Of the 7 cases, 2 cases involved men, while 5 involved women. In all, 2 patients were asymptomatic in incidental cases; in the other 5 cases, the other symptoms included another ruptured pseudoaneurysm (2 cases), expanding mass (1 case), and rupture (2 cases). The treatments besides the incidental cases included sacrifice or trapping in 3 cases, stent graft in 1 case, and stenting and coil embolization in the present case. Surgical repair is aggressive and complex, and vessel reconstruction is limited by arterial fragility in patients with NF-1.15 The operative exposure is judged to be difficult for the lesion with extension of the aneurysm to the distal ICA. Endovascular repair with intraluminal stent grafts has been successfully performed in cases where access for distal arterial control with operative exposure is considered challenging and risky. However, unfavorable anatomy of the ICA including severe kink, loop, or tortuosity or the ICA proximal to the aneurysm challenges the use of stent grafts and may increase the risk of complications with an endovascular approach. Smith et al7 reported a case of successful repair and concluded that although this mode of repair is feasible and challenging, it is a better option than open repair in cases with difficult distal exposure of the involved vessels. In contrast, a combination of endovascular stenting and coil embolization to prevent bleeding and reestablish blood flow has been reported in patients with external and ICA aneurysm.16 However, to date, there have been no cases involving an extracranial ICA pseudoaneurysm in a patient with NF-1 treated successfully with endovascular stenting and coil embolization. Self-expanding stents are used to treat intracranial ICA aneurysms. Furthermore, the combination of endovascular stenting and coil embolization has been reported in patients with intracranial ICA pseudoaneurysm.16 Flexible stents may compress the pseudoaneurysm inflow tract, inducing stasis and
facilitating intra-aneurysmal thrombosis; the thrombosis acts as an endoluminal scaffold to prevent coil herniation into the parent artery, allowing tight packing of even a wide-necked and irregularly shaped aneurysm and serving as a matrix for endothelial growth.17 Assali et al17 evaluated the potential of using flexible self-expanding uncovered stents with or without coiling to treat extracranial internal carotid, subclavian, and other peripheral artery posttraumatic pseudoaneurysms. They concluded that uncovered endovascular flexible self-expanding stent placement with trans-stent coil embolization of the pseudoaneurysm cavity is a promising technique for treating such vascular diseases using minimally invasive methods while preserving the patency of the vessel and side branches. Sakamoto et al18 successfully performed endovascular stenting and coil embolization for ruptured subclavian artery pseudoaneurysms associated with NF-1. In our experience, endovascular stenting and coil embolization for extracranial ICA aneurysm associated with NF-1 were considered safe and effective.
Conclusion Our patient is the first reported example of successful endovascular stenting and coil embolization for an extracranial ICA pseudoaneurysm associated with NF-1. This endovascular treatment was considered safe and effective. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. National Institutes of health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol. 1988; 45(5):575-578. 2. Oderich GS, Sullivan TM, Bower TC, et al. Vascular abnormalities in patients with Neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007;46(3):475-484.
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
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179
3. Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol. 2002;17(8):562-570. 4. Riccardi VM. The vasculopathy of NF1 and histogenesis control genes. Clin Genet. 2000;58(5):345-347. 5. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 cardiovascular task force. Genet Med. 2002;4(3):105-111. 6. Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2000;58(5):341-344. 7. Smith BL, Munschauer CE, Diamond N, Rivera F. Ruptured internal carotid aneurysm resulting from neurofibromatosis: treatment with intraluminal stent graft. J Vasc Surg. 2000;32(4):824-828. 8. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110-1118. 9. Sobata E, Ohkuma H, Suzuki S. Cerebrovascular disorders associated with von Recklinghausen’s neurofibromatosis: a case report. Neurosurgery. 1988;22(3):544-549. 10. Shibuya S, Tanaka K, Saito N, et al. A case report of spontaneous rupture of carotid artery post ceaserian section. J Tsuruoka Municipal Shyonai Hospital. 1994;5(1):90-96. 11. Frank E, Brown BM, Wilson DF. Asymptomatic fusiform aneurysm of the petrous carotid artery in a patient with von Recklinghausen’s Neurofibromatosis. Surg Neurol. 1989;32(1):75-78.
12. Ku YK, Chen HW, Chen HW, Fu CJ, Chin SC, Liu YC. Giant extracranial aneurysms of both internal carotid arteries with a`berrant jugular veins in a patient with neurofibromatosis type 1. Am J Neuroradiol. 2008;29(9):1750-1752. 13. Onkendi E, Moghaddam MB, Oderich GS. Internal carotid artery aneurysm in a patient with neurofibromatosis type 1. Vasc Endovascular Surg. 2010;44(6):511-514. 14. You MW, Kim EJ, Choi WS. Intracranial and extracranial fusiform aneurysms in a patient with neurofibromatosis type 1: a case report. Neurointervention. 2011;6(1):34-37. 15. Kim SJ, Kim CW, Kim S, et al. Endovascular treatment of a ruptured internal thoracic artery pseudo-aneurysm presenting as a massive haemothorax in a patient with type I neurofibromatosis. Caridovasc Intervent Radiol. 2005;28(6):818-821. 16. Bush RL, Lin PH, Dodson TF, Dion JE, Lumsden AB. Endoluminal stent placement and coil embolization for the management of carotid artery pseudo-aneurysms. J Endovasc Ther. 2001;8(1):53-61. 17. Assali AR, Sdringola S, Moustapha A, et al. Endovascular repair of traumatic pseudo-aneurysm by uncover self-expandable stenting with or without trans-stent coiling of the aneurysm cavity. Catheter Cardiovasc Interv. 2001;53(2):253-258. 18. Sakamoto S, Sumida M, Takeshita S, et al. Ruptured subclavian artery pseudo-aneurysm associated with Neurofibromatosis type 1. Acta Neurochir. 2009;151(9):1163-1166.
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
Extracranial Internal Carotid Artery Pseudoaneurysm Associated With Neurofibromatosis Type 1 Treated With Endovascular Stenting and Coil Embolization
Vascular and Endovascular Surgery 2014, Vol 48(2) 176-179 ª The Author(s) 2013 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/1538574413510623 ves.sagepub.com
Osamu Hamasaki, MD1, Fusao Ikawa, MD1, Toshikazu Hidaka, MD1, Yasuharu Kurokawa, MD1, and Ushio Yonezawa, MD1
Abstract An internal carotid artery (ICA) pseudoaneurysm associated with neurofibromatosis type 1 (NF-1) is rare. We report the first case of unruptured extracranial pseudoaneurysm of the ICA in a patient with NF-1 successfully treated with endovascular stenting and coil embolization.A 66-year-old woman diagnosed with NF-1 had sudden left neck pain and massive swelling 3 years earlier. Radiological examination showed a ruptured pseudoaneurysm of the left internal thoracic artery (ITA). The posttreatment computed tomography (CT) scan revealed complete obliteration of the aneurysm of the left ITA and an unruptured pseudoaneurysm of the right ICA. After 3 years of follow-up, a CT scan revealed the enlargement of the pseudoaneurysm of the right extracranial ICA. Endovascular stenting and coil embolization were performed to prevent rupture, and the lesion was completely obliterated. Follow-up angiography at 6 months revealed good flow of the ICA through the stent without any filling of the aneurysm. Keywords internal carotid artery, pseudoaneurysm, neurofibromatosis type 1, coil embolization, stenting
Introduction Neurofibromatosis type 1 (NF-1) is a rare autosomal dominant neurocutaneous genetic disorder, affecting 1 in 3000 to 4000 individuals, with the cardinal features of cafe´ au lait macules, benign neurofibromas, and iris hamartomas.1Vascular abnormalities, mostly in the form of aneurysms or stenosis, affect medium and large vessels and are recognized manifestations of NF-1; these vascular lesions are reported to occur in 0.41% to 6.4% of the patients.2 The renal artery is most frequently involved, but abdominal aortic coarctation, internal carotid artery (ICA) aneurysms, and vertebral arteriovenous malformations have also been reported. Although rare, carotid artery aneurysms often present with life-threatening spontaneous rupture or neurological complications. The pathogenesis and natural history of these vascular lesions remain unknown. Here, we report the first case of unruptured extracranial pseudoaneurysm of the ICA in a patient with NF-1 successfully treated with endovascular stenting and coil embolization.
Case Report A 66-year-old woman diagnosed with NF-1 and presenting with the features of cafe´ au lait macules and benign neurofibromas
had sudden left neck pain and massive swelling 3 years earlier. She received endotracheal intubation in the emergency department of our hospital. Computed tomography (CT) scan with contrast medium showed a pseudoaneurysm of the left internal thoracic artery (ITA) and cervical hematoma. Subsequent angiography also showed the ruptured pseudoaneurysm. The patient received continuous endovascular treatment with coil embolization to prevent rebleeding. The posttreatment CT scan revealed complete obliteration of the aneurysm of the left ITA and an unruptured pseudoaneurysm of the right ICA (Figure 1A). The patient was discharged without any symptoms and attended our hospital for follow-up because of the unknown natural history of unruptured pseudoaneurysm of the ICA associated with NF-1. After 3 years of follow-up, she had no neck pain or neurological deficits. However, a CT scan revealed the enlargement of the
1
Department of Neurosurgery, Shimane Prefectural Central Hospital, Izumo, Japan Corresponding Author: Osamu Hamasaki, Department of Neurosurgery, Shimane Prefectural Central Hospital, 4-1-1 Himebara, Izumo, Shimane 693-8555, Japan. Email: [email protected]
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
Hamasaki et al
177 ICA, jailing the previous microcatheters in the aneurysm (Figure 1C). We used the Axium detachable coil system (ev3 Covidien, Irvine, California) to occlude the aneurysm. A total of 18 detachable coils were deployed into the aneurysm using the double catheter technique until the aneurysm was completely obliterated (Figure 1D). No neurological complications were observed, and the procedure was completed successfully. The patient was maintained on 100 mg aspirin and 200 mg cilostazol 6 months after the procedure. Follow-up angiography at 6 months revealed good flow of the ICA through the stent without any filling of the aneurysm.
Discussion
Figure 1. CT scan (A) with contrast medium at post-treatment of internal thoracic artery aneurysm showing a pseudoaneurysm of extracranial internal carotid artery. After 3 years of follow-up, preoperative angiogram (B) revealing the enlargement of the pseudoaneurysm of extracranial internal carotid artery. Cone beam CT scan (C) showing stent and jailed microcatheters. Postembolization angiogram (D) revealed no aneurysm. CT indicates computed tomography.
pseudoaneurysm of the right ICA. We decided to treat the pseudoaneurysm using a stent and coils to prevent rupture. The patient was premedicated with 100 mg aspirin and 200 mg cilostazol 7 days before treatment. Endovascular treatment was performed under local anesthesia. An Optimo 9F guiding catheter (Tokai medical products, Aichi, Japan) was then guided into the right cervical ICA. Baseline activated clotting time (ACT) was measured, and the patient was administered systemic anticoagulation with intravenous heparin (70 U/kg) to achieve an ACT of 250 to 300 seconds, which was maintained throughout the procedure. Dome size of the aneurysm was 14 11 12 mm, and the neck size was 6 mm (Figure 1B). A Prowler select plus 2.3F microcatheter (Codman Neuroendovascular, Johnson & Johnson, Miami, Florida) was then advanced over a 0.016-in GT microguidewire (Termo, Tokyo, Japan) into the normal distal artery 2.5 to 3.0 cm beyond the aneurysm. Double Excelsior SL-10 microcatheters (Stryker, Kalmazoo, Michigan) were advanced over a CHIKAI 0.014-in microguidewire (Asahi-intecc, Aichi, Japan) into both the outflow zone of the neck and the central portion of the dome. An Enterprise VRD 4.5 28-mm stent (Codman Neuroendovascular, Johnson & Johnson) was then deployed in the
Neurofibromatosis type 1 is caused by mutations of the NF-1 gene located on chromosome 17q11.2.3 The protein product of the NF-1 gene is neurofibromin. Thus, neurofibromin deficiency may be linked to NF-1 vasculopathy. The main hypothesis proposed by Riccardi4 is that the vasculopathy is caused by the alteration in the normal process of vascular maintenance and repair regulated by neurofibromin. Vascular abnormalities (eg, arterial stenoses and aneurysms) in patients with NF-1 occur via a dynamic process of cellular proliferation, degeneration, healing, smooth muscle loss, and fibrosis.5 Vascular endothelial and smooth muscle cells express neurofibromin. The prevalence of vascular abnormalities associated with NF-1 is 0.4% to 6.4%.2 Most patients with NF-1-related vascular abnormalities are asymptomatic, but multiple vessels are involved in the abnormality. The NF-1 vasculopathy has been coined to describe vascular abnormalities that involve medium-, large-, and small-size arteries and veins in patients with NF-1.2,6 The most common clinical presentation is difficult to control hypertension associated with renal artery stenosis in the childhood.2,7 Oderich et al2 reviewed 76 vascular abnormalities in 31 patients with NF-1. Arterial lesions were located in the aorta (n ¼ 17 lesions), renal artery (n ¼ 12), mesenteric artery (n ¼ 12), carotid-vertebral artery (n ¼ 10), intracerebral artery (n ¼ 4), subclavian-axillary artery (n ¼ 3), and iliofemoral artery (n ¼ 3). The ICA aneurysms occurred only in 4 (5.2%) of 76 vascular abnormalities. Furthermore, Oderich et al2 reviewed 237 patients with NF-1, with 320 vascular abnormalities, in the English literature. Renal artery lesions were the most common (41%) and were more often stenotic than aneurysmal. Lesions affecting the carotid, vertebral, or cerebral artery (19% of patients) were commonly aneurysms. In addition, the authors reviewed 30 ICA aneurysms in 29 patients with NF-1 from the English literature between 1957 and 2005. The most common cause of death in patients with NF-1 is malignancy; however, in patients younger than 40 years, vascular disease and hypertension are the second leading causes of death.2,8 The ICA aneurysms in patients with NF-1 are often associated with spontaneous rupture and bleeding, with pregnancy reported as a strong predisposing factor. Sobata et al9 reported a case of a ruptured intracranial ICA aneurysm in a 28-year-old woman that occurred immediately after delivery.
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
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Vascular and Endovascular Surgery 48(2)
Table 1. Summary of Patients With Extracranial Internal Carotid Artery Aneurysms Associated With Neurofibromatosis Type 1. Series (ref no.)
Age/Sex Side
Symptom
Ruptured Treatment
Outcome
Asymptomatic Spontaneous rupture Aneurysm (ECA aneurysm rupture) Stroke and rupture
No Yes No Yes
Alive Dead Alive Alive
Frank et al11 Shibuya et al10 Smith et al7 Ku et al12
18/M 33/F 28/F 28/F
Right Left Left Bilateral
Onkendi et al13 You et al14 Present case
42/F 17/M 66/F
Right Expanding mass Bilateral Asymptomatic Right Aneurysm growth (ITA aneurysm rupture)
No No No
Conservative Surgery, not stopped bleeding Stent graft Left sacrifice, right endovascular trapping Surgery (excision and bypass) Conservative Stenting and coil embolization
Alive Alive Alive
Abbreviations: ECA, external carotid artery; F, female; ITA, internal thoracic artery; M, male.
Shibuya et al10 reported a case of a ruptured extracranial ICA aneurysm in a 33-year-old woman, 9 days postpartum. Smith et al7 also reported a case of a ruptured extracranial ICA aneurysm in a 28-year-old woman, 10 days postpartum. A total of 7 cases of extracranial ICA pseudoaneurysms in patients with NF-1, including the present case (Table 1), have been reported in the literature.7,10-14 The mean age at the time of diagnosis was 33.1 years (range 17-66 years). Of the 7 cases, 2 cases involved men, while 5 involved women. In all, 2 patients were asymptomatic in incidental cases; in the other 5 cases, the other symptoms included another ruptured pseudoaneurysm (2 cases), expanding mass (1 case), and rupture (2 cases). The treatments besides the incidental cases included sacrifice or trapping in 3 cases, stent graft in 1 case, and stenting and coil embolization in the present case. Surgical repair is aggressive and complex, and vessel reconstruction is limited by arterial fragility in patients with NF-1.15 The operative exposure is judged to be difficult for the lesion with extension of the aneurysm to the distal ICA. Endovascular repair with intraluminal stent grafts has been successfully performed in cases where access for distal arterial control with operative exposure is considered challenging and risky. However, unfavorable anatomy of the ICA including severe kink, loop, or tortuosity or the ICA proximal to the aneurysm challenges the use of stent grafts and may increase the risk of complications with an endovascular approach. Smith et al7 reported a case of successful repair and concluded that although this mode of repair is feasible and challenging, it is a better option than open repair in cases with difficult distal exposure of the involved vessels. In contrast, a combination of endovascular stenting and coil embolization to prevent bleeding and reestablish blood flow has been reported in patients with external and ICA aneurysm.16 However, to date, there have been no cases involving an extracranial ICA pseudoaneurysm in a patient with NF-1 treated successfully with endovascular stenting and coil embolization. Self-expanding stents are used to treat intracranial ICA aneurysms. Furthermore, the combination of endovascular stenting and coil embolization has been reported in patients with intracranial ICA pseudoaneurysm.16 Flexible stents may compress the pseudoaneurysm inflow tract, inducing stasis and
facilitating intra-aneurysmal thrombosis; the thrombosis acts as an endoluminal scaffold to prevent coil herniation into the parent artery, allowing tight packing of even a wide-necked and irregularly shaped aneurysm and serving as a matrix for endothelial growth.17 Assali et al17 evaluated the potential of using flexible self-expanding uncovered stents with or without coiling to treat extracranial internal carotid, subclavian, and other peripheral artery posttraumatic pseudoaneurysms. They concluded that uncovered endovascular flexible self-expanding stent placement with trans-stent coil embolization of the pseudoaneurysm cavity is a promising technique for treating such vascular diseases using minimally invasive methods while preserving the patency of the vessel and side branches. Sakamoto et al18 successfully performed endovascular stenting and coil embolization for ruptured subclavian artery pseudoaneurysms associated with NF-1. In our experience, endovascular stenting and coil embolization for extracranial ICA aneurysm associated with NF-1 were considered safe and effective.
Conclusion Our patient is the first reported example of successful endovascular stenting and coil embolization for an extracranial ICA pseudoaneurysm associated with NF-1. This endovascular treatment was considered safe and effective. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
References 1. National Institutes of health Consensus Development Conference. Neurofibromatosis: conference statement. Arch Neurol. 1988; 45(5):575-578. 2. Oderich GS, Sullivan TM, Bower TC, et al. Vascular abnormalities in patients with Neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg. 2007;46(3):475-484.
Downloaded from ves.sagepub.com at University of Ulster Library on May 20, 2015
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3. Viskochil D. Genetics of neurofibromatosis 1 and the NF1 gene. J Child Neurol. 2002;17(8):562-570. 4. Riccardi VM. The vasculopathy of NF1 and histogenesis control genes. Clin Genet. 2000;58(5):345-347. 5. Friedman JM, Arbiser J, Epstein JA, et al. Cardiovascular disease in neurofibromatosis 1: report of the NF1 cardiovascular task force. Genet Med. 2002;4(3):105-111. 6. Hamilton SJ, Friedman JM. Insights into the pathogenesis of neurofibromatosis 1 vasculopathy. Clin Genet. 2000;58(5):341-344. 7. Smith BL, Munschauer CE, Diamond N, Rivera F. Ruptured internal carotid aneurysm resulting from neurofibromatosis: treatment with intraluminal stent graft. J Vasc Surg. 2000;32(4):824-828. 8. Rasmussen SA, Yang Q, Friedman JM. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001;68(5):1110-1118. 9. Sobata E, Ohkuma H, Suzuki S. Cerebrovascular disorders associated with von Recklinghausen’s neurofibromatosis: a case report. Neurosurgery. 1988;22(3):544-549. 10. Shibuya S, Tanaka K, Saito N, et al. A case report of spontaneous rupture of carotid artery post ceaserian section. J Tsuruoka Municipal Shyonai Hospital. 1994;5(1):90-96. 11. Frank E, Brown BM, Wilson DF. Asymptomatic fusiform aneurysm of the petrous carotid artery in a patient with von Recklinghausen’s Neurofibromatosis. Surg Neurol. 1989;32(1):75-78.
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