ABSTRACT
No disponible
Subject(s)
Humans , Mediastinal Emphysema/etiology , Lung Diseases/genetics , Mediastinal Emphysema/geneticsABSTRACT
Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facial emphysema after severe coughing without pneumothorax, skin lesions or renal tumour, but a striking family history of lung abnormalities.
Subject(s)
Birt-Hogg-Dube Syndrome/complications , Birt-Hogg-Dube Syndrome/genetics , Mediastinal Emphysema/complications , Mediastinal Emphysema/genetics , Birt-Hogg-Dube Syndrome/diagnostic imaging , Cough/complications , Frameshift Mutation , Humans , Male , Mediastinal Emphysema/diagnostic imaging , Pedigree , Phenotype , Proto-Oncogene Proteins/genetics , Tomography, X-Ray Computed , Tumor Suppressor Proteins/genetics , Young AdultSubject(s)
ATP-Binding Cassette Transporters/genetics , Mediastinal Emphysema/etiology , Mutation, Missense , Point Mutation , Pulmonary Emphysema/etiology , ATP-Binding Cassette Transporters/physiology , Anemia/etiology , Child, Preschool , Critical Care , Dyspnea/etiology , Genetic Predisposition to Disease , Heterozygote , Humans , Leukocytosis/etiology , Male , Mediastinal Emphysema/diagnostic imaging , Mediastinal Emphysema/genetics , Pulmonary Emphysema/diagnostic imaging , Respiratory Tract Infections/complications , Subcutaneous Emphysema/diagnostic imaging , Subcutaneous Emphysema/etiology , Tomography, X-Ray ComputedABSTRACT
El neumomediastino es un cuadro clínico en el que se difunde aire a través del intersticio pulmonar, el mediastino e incluso el cuello; puede ser primario o secundario. Presenta una incidencia de un caso cada 7.000-12.000 pacientes que acuden a un servicio de Urgencias, y es más frecuente en varones (8/1) entre la segunda y la tercera décadas de la vida. El dolor torácico es el síntoma más frecuente, pudiéndose asociar a disnea, enfisema subcutáneo cervical, odinofagia o alteraciones de la voz. Se diagnostica mediante la radiografía de tórax, y sólo en casos donde la cantidad de aire es mínima es necesaria la realización de una tomografía axial computarizada para realizar el diagnóstico de confirmación. En lo que se refiere al tratamiento, este se basa en el reposo, la oxigenoterapia y la analgesia, siendo necesario el ingreso hospitalario sólo en caso de patología de base o criterios clínicos que así lo aconsejen (AU)
Pneumomediastinum is a clinical picture in which air is diffused through the pulmonary interstitium, mediastinum and even the neck, and it can be primary or secondary. It presents an incidence of one case for every 7,000-12,000 patients who come to the Emergency Department, and is more frequent in men (8/1) in the second and third decades of life. Chest pain is the most frequent symptom, and can be associated with dyspnea, subcutaneous cervical emphysema, odinophagia or voice alterations. It is diagnosed by chest xray, and computed tomography scan is only necessary for confirmation diagnosis when the amount of air is minimal. In regards to treatment, this is based on rest, oxygen therapy and analgesics, hospitalization only being necessary in the case of baseline disease or critical criteria that make it advisable (AU)
