Related Experiment Video
Updated: Aug 20, 2025
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
Published on: May 17, 2024
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
Ilenia Chillura1, Giulia Angela Restivo2, Simonetta Callari1
1Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, Piazza delle Cliniche, 2, 90127, Palermo, Italy.
Background:
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome, due to heterozygous pathogenic variants in NF1 gene. The main clinical manifestations are multiple café au lait spots, axillary and inguinal freckling, cutaneous and plexiform neurofibromas, optic glioma, Lisch nodules and osseous lesions, such as sphenoid and tibial dysplasia. Vasculopathy is another feature of NF1; it consists of stenosis, aneurysms, and arteriovenous malformations, frequently involving renal arteries.
Case Presentation:
We report on a 9-year-old girl with a novel mutation in NF1 gene and renal artery aneurysm, treated by coil embolization and complicated with hypertension.
Conclusion:
Vasculopathy is a complication of NF1, affecting from 0.4 to 6.4% of patients with NF1. Among the vascular abnormalities, renal artery aneurysm is a rare manifestation, with only a few cases regarding adult patients and no pediatric reports described in current literature. The finding of a vascular abnormality in a specific site requires the evaluation of the entire vascular system because multiple vessels could be involved at the same time.
