Renal artery rupture with lethal outcome in a patient with neurofibromatosis type 1: Case report and review of literature

Neurofibromatosis type 1 is an autosomal dominant disorder. The vasculopathy of neurofibromatosis type 1 may rarely comprise stenosis, occlusion, aneurysm, pseudoaneurysm, and arteriovenous deformity, and it often presents as rupture of an undiagnosed lesion, which highly increases mortality in youn...

Full description

Saved in:
Bibliographic Details
Main Authors: Jisun Lee, Yook Kim
Format: Article
Language:English
Published: SAGE Publishing 2025-04-01
Series:Journal of International Medical Research
Online Access:https://doi.org/10.1177/03000605251335853
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Neurofibromatosis type 1 is an autosomal dominant disorder. The vasculopathy of neurofibromatosis type 1 may rarely comprise stenosis, occlusion, aneurysm, pseudoaneurysm, and arteriovenous deformity, and it often presents as rupture of an undiagnosed lesion, which highly increases mortality in young patients with neurofibromatosis type 1. A female patient in her early 30s who had neurofibromatosis type 1 presented to our hospital with extensive and progressive bleeding of a ruptured renal artery pseudoaneurysm caused by trauma. Complete total embolization of the renal artery was performed using several microcoils and a mixture of n-butyl cyanoacrylate and iodized oil. Despite combined endovascular and surgical management tailored to the patient’s condition, she died from uncontrolled bleeding. Endovascular treatment is widely regarded as a safe and less invasive option for managing vascular complications in neurofibromatosis type 1. However, it may be insufficient in rapidly progressive cases. Considering the vascular fragility and recurrence of hemorrhagic shock, earlier surgical intervention, including nephrectomy, should have been more strongly considered. This case highlights the limitations of repeated endovascular management alone and suggests that prompt surgical exploration is warranted when pseudoaneurysm rupture is suspected, even in seemingly stable patients. Ultimately, this case underscores the need for heightened clinical vigilance and early surgical decision-making in the treatment of neurofibromatosis type 1 and rapidly evolving vascular injuries.
ISSN:1473-2300