Affiliation:
1. Faculty of Medicine, Damascus University
2. Faculty of Medicine, Al Andalus University for Medical Sciences, Tartus, Syrian Arab Republic
3. Department of Radiology, Damascus Hospital, Damascus
4. Department of Urology, Faculty of Medicine
5. Head of Vascular and Endovascular Surgery Division, Al-Assad University Hospital, Damascus University
Abstract
Introduction and importance:
Neurofibromatosis type 1 (NF1) is a genetic disorder characterised by multiple neurofibromas, café-au-lait spots, and iris hamartomas. The variety of vasculopathies that can occur in NF1 make it difficult for clinicians to accurately follow-up patients. Most cases of vasculopathies are stenotic, and, in few cases, aneurysms may form.
Case presentation:
A 35-year-old male presented with extreme left flank pain for the past 2 days. His physical examination revealed whole-body several café-au-lait skin macules, a subcutaneous lesion, and a palpable abdominal mass in the left flank. His laboratory workup was within normal ranges. A multi-slice computed tomography and computed tomography angiogram with contrast outlined a giant left renal artery aneurysm (RAA). A kidney salvage surgery was planned. However, due to ectatic dilatation and large extension of the aneurysm, the affected renal artery branches and renal vein were found unfit for auto-transplantation during the surgical procedure and a total nephrectomy was necessary. Symptoms improved significantly postoperatively and no complications developed.
Clinical discussion:
RAA is an uncommon finding in NF1 patients. Diagnosis is often dependent on computed tomography angiogram. Management techniques are conservative, endovascular, or surgical. In few surgical cases, a total nephrectomy may be necessary if auto-transplantation is not feasible.
Conclusion:
Despite its rarity, the diagnosis of RAA should be considered in patients with NF1 presenting with flank pain. Moreover, early screening for renal vasculopathies can evade critical surgical outcomes including a total nephrectomy. Hence, the authors recommend a total vascular workup for these patients, consisting of doppler ultrasound and, if necessary, a multi-slice computed tomography with contrast.
Publisher
Ovid Technologies (Wolters Kluwer Health)
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