A novel NF1 mutation in a pediatric patient with renal artery aneurysm.

Autor: Chillura I; Department 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., Restivo GA; Department 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. giulia.a.restivo@gmail.com., Callari S; Department 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., Cibella S; Department 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., D'Alessandro MM; Pediatric Nephrology Unit, ARNAS Ospedali Civico, Di Cristina e Benfratelli, Via dei Benedettini, 1, 90134, Palermo, Italy., Corrado C; Pediatric Nephrology Unit, ARNAS Ospedali Civico, Di Cristina e Benfratelli, Via dei Benedettini, 1, 90134, Palermo, Italy., Vallone M; Radiology Unit, ARNAS Ospedali Civico, Di Cristina e Benfratelli, Piazza Nicola Leotta, 4, 90127, Palermo, Italy., Antona V; Department 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., Corsello G; Department 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.
Jazyk: angličtina
Zdroj: Italian journal of pediatrics [Ital J Pediatr] 2022 Nov 21; Vol. 48 (1), pp. 186. Date of Electronic Publication: 2022 Nov 21.
DOI: 10.1186/s13052-022-01382-8
Abstrakt: 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.
(© 2022. The Author(s).)
Databáze: MEDLINE
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