RESUMEN
Primary ciliary dyskinesia (PCD) is a genetic disease with chronic airway infection and inflammation caused by ciliary ultrastructural defects and impairment in ciliary function. We present an adult case of PCD with compound heterozygous nonsense variants in CCDC39. The ciliary ultrastructure findings using electron microscopy and ciliary movement using high-speed video analysis matched the genotype. This is the first case report of PCD with CCDC39 variants in Japan demonstrating specific ciliary ultrastructure and movement related to the genotype.
Asunto(s)
Cilios , Trastornos de la Motilidad Ciliar , Adulto , Cilios/genética , Cilios/ultraestructura , Trastornos de la Motilidad Ciliar/genética , Proteínas del Citoesqueleto/genética , Genotipo , Humanos , JapónRESUMEN
Retropharyngeal emphysema is a rare condition, and it is important to determine whether the patient presents with complications including pneumomediastinum or other severe clinical presentations such as an upper airway obstruction. In such cases, patients should undergo urgent tracheostomy and surgical neck drainage with concurrent administration of broad-spectrum antibiotics.