When a congenital disorder meets genetics

We report the case of a 34 years-old female, who presented at the emergency room with acute right chest pleuritic pain and 4 weeks of dry cough. At the examination the patient had diminished breath sounds on the right hemithorax with hyperresonance. The chest x-ray revealed a pneumothorax and she was submitted to pleural drainage. The CT scan showed a right-sided Bochdalek hernia with herniation of the liver and a thickening of the right inguinal canal. Due to non-resolution, thoracic surgery was performed and 2 diaphragmatic hernias with liver content were identified, fenestrations on the diaphragm and foci of endometriosis. Goserelin acetate was started. Bochdalek Hernia is a rare developmental defect in the posterolateral diaphragm, caused by an insufficient closure of the pleuroperitoneal canal, allowing herniation of abdominal content into the thorax, more frequent on the left side (in this case on the right side) and diagnosed in infants. Adults may experience chest or abdominal pain, dyspnea or be asymptomatic and the hernia is discovered incidentally for another reason, as in this clinical case. There are a few cases in the literature related with spontaneous pneumothorax. Although it is not clear if pneumothorax causes the hernia or the hernia causes the pneumothorax. Endometriosis is a chronic disease characterized by ectopic endometrial tissue growth outside of the uterus. The lesions are typically located in the pelvis but can appear in multiple locations including the pleural cavity being the pneumothorax the form of manifestation of this condition, as in this case. We present this case because of the combination of two etiological risk factors for pneumothorax – the Bochdalek hernia (a congenital cause) and endometriosis (a genetic cause).