92 - Postersitzung
17. Mai 2019, 12:30 - 14:00, Bellavista 2, 6. OG
A rare case of superior gluteal artery pseudoaneurysm associated with Neurofibromatosis Type 1
M. Sleiman, H. L. Chan, C. Haller, Presenter: M. Sleiman (Sion)
Neurofibromatosis type I (NF-1), also called Von Recklinghausen's disease, is a autosomal dominant genetic disorder caused by the mutation of a NF1 gene on chromosome 17 that is responsible for the clinical hallmarks such as café-au-lait spots, neurofibromas, and Lisch nodules of the iris. However, NF1 can also affect several organ including the vascular system. We report a rare case of a symptomatic superior gluteal artery pseudoaneurysm in a young female patient with NF-1.
A 37-year-old woman, known for neurofibromatosis type 1, who presented two months earlier a ruptured aneurysm of a branch of internal iliac artery and was treated with embolization without complication, was admitted in the emergency department for progressive left lumbar pain irradiating in the left leg. A computed tomography angiography was performed and showed a newly-formed pseudoaneurysm of the left superior gluteal artery. An embolization by coiling of the left gluteal artery associated with an intra-aneurysmal injection of thrombin under ultrasound guidance was performed by the interventional radiologist. This procedure was complicated by an aorto-cava fistula with hemorrhagic shock. We immediately performed with success an endovascular aortic repair and the patient was discharged home on day 12.
The spectrum of vasculopathy in neurofibromatosis type I includes aneurysm, stenosis and arteriovenous malformation of medium and large size vessels and the prevalence is estimated at 0.4-0.6% of all patient. Vascular disease is the second most common cause of mortality in NF-1 after malignancy. Common site of aneurysm formation in this population is the aorta, renal arteries, mesenteric arteries, carotid arteries, vertebral arteries and cerebrovascular system. The association between NF-1 and superior gluteal artery aneurysm is a rare finding with only one case reported in the literature. The choice of the endovascular procedure or open surgery depends on the localization and type of aneurysm and the indications are the same than in the patient without NF-1.
Neurofibromatosis type I is a rare disease which can lead to vascular manifestation such as ruptured aneurysm in different location. Endovascular treatments are sometimes indicated but the vascular fragility can lead rapidly to complications.