A novel NF1 mutation in a pediatric patient with renal artery aneurysm
Abstract 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...
| Main Authors: | , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2022-11-01
|
| Series: | Italian Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13052-022-01382-8 |
| _version_ | 1811304549141446656 |
|---|---|
| author | Ilenia Chillura Giulia Angela Restivo Simonetta Callari Sabrina Cibella Maria Michela D’Alessandro Ciro Corrado Mario Vallone Vincenzo Antona Giovanni Corsello |
| author_facet | Ilenia Chillura Giulia Angela Restivo Simonetta Callari Sabrina Cibella Maria Michela D’Alessandro Ciro Corrado Mario Vallone Vincenzo Antona Giovanni Corsello |
| author_sort | Ilenia Chillura |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-04-13T08:09:05Z |
| format | Article |
| id | doaj.art-82d464b8abaf4017a8c28b849f36b134 |
| institution | Directory Open Access Journal |
| issn | 1824-7288 |
| language | English |
| last_indexed | 2024-04-13T08:09:05Z |
| publishDate | 2022-11-01 |
| publisher | BMC |
| record_format | Article |
| series | Italian Journal of Pediatrics |
| spelling | doaj.art-82d464b8abaf4017a8c28b849f36b1342022-12-22T02:55:03ZengBMCItalian Journal of Pediatrics1824-72882022-11-014811510.1186/s13052-022-01382-8A novel NF1 mutation in a pediatric patient with renal artery aneurysmIlenia Chillura0Giulia Angela Restivo1Simonetta Callari2Sabrina Cibella3Maria Michela D’Alessandro4Ciro Corrado5Mario Vallone6Vincenzo Antona7Giovanni Corsello8Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoPediatric Nephrology Unit, ARNAS Ospedali Civico, Di Cristina e BenfratelliPediatric Nephrology Unit, ARNAS Ospedali Civico, Di Cristina e BenfratelliRadiology Unit, ARNAS Ospedali Civico, Di Cristina e BenfratelliDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties “G. D’Alessandro”, University of PalermoAbstract 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.https://doi.org/10.1186/s13052-022-01382-8Neurofibromatosis type 1Renal artery aneurysmCoil embolizationHypertension |
| spellingShingle | Ilenia Chillura Giulia Angela Restivo Simonetta Callari Sabrina Cibella Maria Michela D’Alessandro Ciro Corrado Mario Vallone Vincenzo Antona Giovanni Corsello A novel NF1 mutation in a pediatric patient with renal artery aneurysm Italian Journal of Pediatrics Neurofibromatosis type 1 Renal artery aneurysm Coil embolization Hypertension |
| title | A novel NF1 mutation in a pediatric patient with renal artery aneurysm |
| title_full | A novel NF1 mutation in a pediatric patient with renal artery aneurysm |
| title_fullStr | A novel NF1 mutation in a pediatric patient with renal artery aneurysm |
| title_full_unstemmed | A novel NF1 mutation in a pediatric patient with renal artery aneurysm |
| title_short | A novel NF1 mutation in a pediatric patient with renal artery aneurysm |
| title_sort | novel nf1 mutation in a pediatric patient with renal artery aneurysm |
| topic | Neurofibromatosis type 1 Renal artery aneurysm Coil embolization Hypertension |
| url | https://doi.org/10.1186/s13052-022-01382-8 |
| work_keys_str_mv | AT ileniachillura anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT giuliaangelarestivo anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT simonettacallari anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT sabrinacibella anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT mariamicheladalessandro anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT cirocorrado anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT mariovallone anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT vincenzoantona anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT giovannicorsello anovelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT ileniachillura novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT giuliaangelarestivo novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT simonettacallari novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT sabrinacibella novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT mariamicheladalessandro novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT cirocorrado novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT mariovallone novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT vincenzoantona novelnf1mutationinapediatricpatientwithrenalarteryaneurysm AT giovannicorsello novelnf1mutationinapediatricpatientwithrenalarteryaneurysm |