Medicina Molecular e Genética

A Case Report of Familial Spontaneous Pneumothorax

Abstract

Kittivoravitkul P

Spontaneous pneumothorax is regarded as a common and benign clinical entity, however, it can be life-threatening if it progress to tension pneumothorax. While tension pneumothorax can develop abruptly, cardiovascular compromise progress more gradually due to the existence of a compensatory mechanism. A 30-year-old Thai male, previously healthy, who presented with left-sided spontaneous pneumothorax. He informed physician that his mother was previously diagnosed as secondary pneumothorax and underwent pleurodesis. He underwent video-assisted thoracoscopic for pleurodesis. Additional investigation showed multiple lung cysts in Computerized Tomography Scan. Birt-Hogg Dube syndrome was confirmed genetically by FLCN gene mutation.