Mounier-Kuhn syndrome and tracheopathia osteoplastica in the same patient with respiratory insufficiency

Abstract

Mounier-Kuhn syndrome (MKS) or tracheobronchomegaly, and tracheopathia osteoplastica (TO) are rare diseases. MKS is a clinical entity characterized by abnormal dilatation of the trachea and main bronchi. TO is a clinical and pathologic condition characterized by multiple submucosal cartilaginous and osseous nodules lining the upper respiratory tract. Some people with MKS manifest recurrent pneumonia or chronic cough with sputum production, hemoptysis or dyspnea. Occasionally, it is found in asymptomatic individuals. CT scan imaging is the key tool for the diagnosis when showing a dilatation of the trachea and main bronchi. TO is usually benign and asymptomatic, frequently diagnosed incidentally during intubation. Flexible fiberoptic bronchoscopy and laryngoscopy are the key diagnostic tools which typically demonstrate irregular spicules of submucosal bone and cartilage projecting into the tracheobronchial lumen and causing various degrees of airway obstruction. When this aspect is found bronchial biopsy is not mandatory. We report the case of a 26-year-old man with features of both MKS and TO who presented a previous history of productive cough, recurrent pneumonia and dyspnea; admitted for pulmonary infection resulting in a respiratory insufficiency. MKS was diagnosed by CT scan and TO by fiberoptic bronchoscopy. To our knowledge, this is the first time these pathologies are reported in the same patient, and our patient is the second one having MKS who presented with respiratory insufficiency.