0000000000055454
AUTHOR
Ilenia Chillura
showing 2 related works from this author
A novel NF1 mutation in a pediatric patient with renal artery aneurysm
2022
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 Vasculop…
A 7-Year-Old Boy and a 14-Year-Old Girl Initially Diagnosed with Toxic Shock Syndrome and Tested Positive for SARS-CoV-2 Infection, Supporting a Diag…
2021
Case series Patients: Male, 7-year-old • Female, 14-year-old Final Diagnosis: Multisystem inflammatory syndrome in children (MIS-C) Symptoms: Muscular weakness • shock Medication: — Clinical Procedure: — Specialty: Critical Care Medicine • Infectious Diseases • Pediatrics and Neonatology • Rheumatology Objective: Unusual clinical course Background: Multisystem inflammatory syndrome in children (MIS-C) has recently been described in children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This report describes 2 children with MIS-C who were initially diagnosed with toxic shock syndrome but who tested positive for SARS-CoV-2 infection on reverse transcription-polym…