Vertebral Artery Aneurysms and Cervical Arteriovenous Fistulae in Patients with Neurofibromatosis 1

Guillermo Higa; John P. Pacanowski Jr; David T. Jeck; Kaoru R. Goshima; Luis R. León Jr

Disclosures

Vascular. 2010;18(3):166-177. 

In This Article

Case Report

A 60-year-old white female with a known diagnosis of NF1 was evaluated in the emergency department of an outside hospital with a 3-day history of neck pain and swelling, associated with severe difficulty breathing. She denied other symptoms, such as fever, chills, dysphagia, or chest, abdominal, or back pain. Her history is otherwise significant for hypertension, coronary artery disease, asthma, chronic obstructive pulmonary disease requiring chronic steroid use, and idiopathic hypertrophic aortic stenosis with severe aortic regurgitation. She is also on chronic anticoagulation owing to a mitral valve replacement 13 years prior to her current presentation.

On physical examination, she was afebrile, with a blood pressure of 180/68 mm Hg and a heart rate of 81 beats per minute. She was awake and alert on initial assessment, with nontoxic appearance but in moderate to severe respiratory distress, sitting upright with mild stridor. She had a cushingoid appearance, with central obesity and a very short neck. Cervical examination revealed massive soft tissue swelling and ecchymosis over the left anterior triangle, extending up to the sternocleidomastoid muscle. Her skin was warm and dry, with multiple neurofibromas distributed throughout her body (Figure 1). Computed tomography (CT) of the neck showed a large cervical mass extending from the lung apex to the left side of the neck, with severe right tracheal deviation (Figure 2). This was interpreted as an enlarging hematoma, with severe mass effect on the carotid artery and her airway. There was also some contrast material pooling near the left VA, which was felt to reflect a VA ruptured aneurysm. The patient underwent an awake fiberoptic intubation, and fresh frozen plasma was immediately administered. She suffered a prolonged period of hypoxia during intubation, with severe oxygen desaturation and cyanosis of all four extremities.

Figure 1.

This image depicts four photographs of the patient's skin, showing innumerable skin tumors spread throughout her body. These skin masses are consistent with her history of neurofibromatosis.

Figure 2.

Preintervention computed tomographic scan before (right upper panel) and after intravenous contrast administration (left upper panel) obtained in another facility showing a bilobed vertebral artery aneurysm, with contrast extravasation into its cavity. Note the severe mass effect produced by the aneurysm in the left lower panel, causing a large tracheal deviation to the right (large arrow) and collapse of the left common carotid artery (small arrow). The left lower panel shows a coronal reconstruction showing the mass effect of the aneurysm and a large amount of contrast filling up its lumen. The right panel shows the aneurysm at the point of its largest transverse diameter.

After hemodynamic stabilization, she was transferred to our institution. On admission, her blood work was significant for a white blood cell count of 20.6 × 10[9] cells/L, an international normalized ratio of 1.8, and a hemoglobin of 12 g/dL. A chest radiograph showed possible pneumonia, for which empiric intravenous antibiotics were started. A cardiac echocardiogram showed a left ventricular ejection fraction of 45%, with mild to moderate left ventricular hypertrophy. Her hemoglobin decreased to 8.3 g/dL, requiring a transfusion of 2 units of packed red blood cells. She was deemed to be at a very high surgical risk for operative repair.

The decision was made to treat the ruptured VA aneurysm through endovascular means. Arch angiography demonstrated a left subclavian artery (LSA) occlusion after a short proximal stump (Figure 3). There was late retrograde filling of the left VA and enlarged left neck branches, with at least some originating from the left VA, extending into a complex left cervical AVF with aneurysmal components. This likely reflected a ruptured aneurysm and an associated AVF. The right VA and the carotid arteries bilaterally were patent.

Figure 3.

An arch arteriogram depicts a left subclavian artery occlusion, with severe right-sided displacement of the left carotid arteries owing to the mass effect of the aneurysm (left panel). The image on the right shows the late phase of the initial arch arteriogram, showing the arteriovenous fistula and its bilobed aneurysmal component, which can also be seen in the adjacent computed tomographic reconstruction cut (inset).

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