Juvenile recurrent parotitis: Diagnostic and therapeutic effectiveness of sialography. Retrospective study on 110 children.

Introduction: Juvenile recurrent parotitis (JRP) is characterized by recurrent episodes of painful parotid swelling, generally associated with non-obstructive sialectasia of the parotid gland. The aim of this study was to evaluate the diagnostic and therapeutic effectiveness of sialography in children affected by JRP.

Methods: Clinical records of 110 outpatients with a diagnosis of JRP followed up from 2008 to 2017 at the Unit of Paediatric Otorhinolaryngology, Surgery Department of the Bambino Gesù Children's Hospital of Rome, were retrospectively reviewed.

ENT and mucopolysaccharidoses.

The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders.

Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.

KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.