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Neurofibromatosis is an autosomal dominant genetic disease characterized by abnormal growth that involves tissues of mesodermal and neuroectodermal origin. Aneurysms are rarely seen in peripheral arteries. This report presents a case of ruptured arterial aneurysm secondary to neurofibromatosis; the lesion occurred in the profunda femoris artery, a highly unusual location. Treatment of patients with ruptured arterial aneurysm secondary to neurofibromatosis may be interventional or surgical. In this case, a surgical approach was successful.
Neurofibromatosis is a genetic disorder with autosomal dominant inheritance, which classically manifests itself with café au lait spots and neurofibromas. It is characterized by abnormal growth involving tissues of mesodermal and neuroectodermal origin.1 The disease affects the skin, central and peripheral nervous system, meninges, skeleton, endocrine tissues, and cardiovascular system.2 Arterial involvement is usually in the form of stenoses. Aneurysms have been reported infrequently and typically involve visceral or proximal peripheral arteries.3
The current report presents a case of ruptured arterial aneurysm in an unusual location.
In March 2009, a 59-year-old man was referred to our clinic with a painful swelling of 3 days' duration on his left thigh. He had seen ecchymosis on the medial and posterior aspects of his thigh for a day. He reported stable angina pectoris.
The patient had no history of local trauma, fracture, intravenous or intramuscular medication, or infection. He had a history of smoking and of type 1 (peripheral) neurofibromatosis. He did not have hypertension or diabetes mellitus. He was not taking any medication.
On physical examination, he had a blood pressure of 128/60 mmHg. He had normal cardiac and respiratory system findings. His abdominal findings were also normal. He had numerous café au lait spots scattered on his body, and multiple peripheral cutaneous neurofibromas. No masses were palpated in any part of his body except for his left thigh. He had a swollen left thigh with ecchymosis on its medial and posterior aspects (Fig. 1). The swelling was spreading to the left inguinal region. There was a pulsation all over the inguinal region and femoral triangle. A systolic bruit could be heard upon tracing the path of the femoral artery with a stethoscope. The left foot was warm, and the toes were pink, with good capillary refill. The popliteal, dorsalis pedal, and posterior tibial pulses were all palpable and symmetric. Aneurysmal dilation of the common femoral artery (14 mm) and the profunda femoris artery (29 mm) were seen on computed tomographic (CT) angiography. The profunda femoris had arterial wall irregularities compatible with aneurysmal rupture (Fig. 2). Thoracoabdominal CT angiography revealed no aortic or visceral aneurysms. The results of his biochemical laboratory analysis were normal except for a hemoglobin level of 8 g/dL and a hematocrit of 0.23.
The operation was performed with the patient under regional anesthesia. We extended the skin incision from the inguinal region to the upper third of the thigh, over the femoral artery. The common femoral artery and the distal external iliac artery had aneurysmal dilation. The profunda femoris artery had severe aneurysmal dilation, with a ruptured anterolateral wall. Therefore, we interposed a 15-cm-long Dacron graft (8 mm in diameter) between the external iliac artery and the superficial femoral artery. The arteries were fragile. Considering the patency of the superficial femoral artery and the leg arteries, we made no attempt to reconstruct the profunda femoris. The profunda femoris artery was ligated from its proximal and distal segments. Postoperatively, the dorsalis pedis and tibialis posterior arterial pulses were palpable. Histopathologic specimens showed internal elastic lamina fragmentation and duplication, medial dissection, and intimal hyperplasia.
Coronary angiography revealed a 40% stenosis of the left anterior descending coronary artery. Arteriography of the left lower limb revealed a patent bypass graft. The patient had an uneventful recovery and was discharged from the hospital on the 5th postoperative day on an oral antiplatelet and nitrate regimen.
This arterial aneurysm found in association with neurofibromatosis is to our knowledge the only one ever reported in this location. Vascular diseases secondary to neurofibromatosis type 1 include renovascular hypertension, aortic stenoses, occlusive arterial disease, and aneurysms of the pulmonary, cardiac, cervical, and cerebral arteries. Stenoses and aneurysms are seen mostly in the aortic branches and the abdominal aorta.3
Most patients with vascular abnormalities secondary to neurofibromatosis are asymptomatic, even when multiple vessels are involved. The prevalence of vascular involvement is 0.4% to 6.4%. Arterial involvement is seen in the aorta, renal artery, mesenteric artery, carotid–vertebral artery, intracerebral arteries, subclavian–axillary and iliofemoral arteries,4 popliteal artery,1 ulnar artery,5 and anterior tibial artery.3 Most common (in 41% of such cases) is renal artery involvement, which is more often stenotic than aneurysmal. Carotid, vertebral, or cerebral artery lesions (in toto) are seen in 19% of patients, and these are commonly aneurysmal. Subclavian or brachiocephalic artery lesions were seen in 6.3% of affected patients.4
Asymptomatic patients can be treated conservatively.4 When neurofibromatosis patients experience vascular rupture, they might present with pain, hemothorax, an expanding mass, dyspnea, or dysphagia. Ligation, repair, and grafting may be performed as treatment. Because ischemia of the extremities and gangrene can follow ligation for rupture, ligation must in many cases be accompanied by grafting to re-establish blood flow to the extremity.6 Surgical repair is aggressive and complex, yet vascular reconstruction is limited by the arterial fragility of patients who have neurofibromatosis.7 Therefore, other treatment options such as endovascular stenting and coil embolization might be considered. In the present case, because the profunda femoris artery was very fragile, no attempt was made to revascularize it. Postoperatively, our patient was free of symptoms; this unusual location of the lesion seems to be one in which ligation is well tolerated. However, our patient's aneurysmal formation also included the common femoral artery, which should not be treated only by ligation. Bypass grafting of the ligated arterial segment or interpositional grafting must be added to the procedure to avoid distal limb ischemia. In our patient, we preferred to interpose a graft between the external iliac artery and the superficial femoral artery.
Address for reprints: Bilgin Emrecan, MD, Yunusemre cad. No: 83/5, Kinikli 20070, Denizli, Turkey