A novel mutation in GAS8 gene associated with chronic rhinosinusitis with nasal polyposis in a case of primary ciliary dyskinesia: a case report.

Background: Primary ciliary dyskinesia (PCD) is considered a rare cause of chronic rhinosinusitis with nasal polyposis (CRSwNP), which is reported in 6% of children with PCD. The forms of PCD associated with the variants of the GAS8 gene identified so far seem to be linked to recurrent respiratory infections (sinusitis, otitis, and bronchiectasis) without situs inversus.

Case Presentation: We report a case of an 11-year-old girl with recurrent otitis media, productive cough, and chronic rhinosinusitis with nasal polyposis with homozygosity for a novel nonsense mutation in the GAS8.

Diagnostic and Therapeutic Strategy for Vagal Schwannoma: Case Series and Literature Review.

Clinical management of vagal schwannoma is a real diagnostic and therapeutic challenge because the medical history and clinical examination are often non-specific and vagal nerve injury following surgical resection still represents an unsolved problem. The aim of this paper is to provide a case series along with a diagnostic and therapeutic algorithm for vagal schwannoma of the head and neck, combining our experience with clinical evidence available in the literature. We retrospectively analyzed a series of patients affected by vagal schwannoma who were treated between 2000 and 2020.

Endotypes of Nasal Polyps in Children: A Multidisciplinary Approach.

Nasal polyps (NPs) are rarely reported in childhood and usually represent red flags for systemic diseases, such as cystic fibrosis (CF), primary ciliary dyskinesia (PCD) and immunodeficiencies. The European Position Paper released in 2020 (EPOS 2020) provided a detailed classification and defined the correct diagnostic and therapeutic approaches. We report a one-year experience of a multidisciplinary team, made up of otorhinolaryngologists, allergists, pediatricians, pneumologists and geneticists, with the aim of ensuring a personalized diagnostic and therapeutic management of the pathology.