For a better visualization of the entire tracheobronchial architecture, we performed a bronchography with Ultravist (Fig. 3), which showed tracheomegaly, tracheal diverticula, and cystic bronchiectasis in right inferior lobe bronchus and middle lobe bronchus with irregularities of bronchial contour, image of chronic bronchitis, and cystic bronchiectasis involving right lower lobe and middle lobe bronchi.
On the basis of these findings, the patient was diagnosed with Mounier-Kuhn syndrome and was discharged from the hospital after 7 days of treatment with oral levofloxacin (750 mg daily), mucolytics and postural drainage including aerosols with acetylcysteine and bronchodilators.
The Mounier-Kuhn syndrome is a congenital condition characterized by a distinct tracheobronchial dilatation due to the muscular and elastic tissue atrophy in trachea and in the bronchial walls, which presents more frequently in males, and it is usually diagnosed in the third and fourth life decade. The clinical presentation significantly varies from minimal symptoms, wherein the pulmonary function is maintained, to severe respiratory insufficiency and death. Different airway regions are affected, starting from trachea and up to the fourth bronchial generation. Although its cause is not entirely known, tracheobronchomegaly is related to the family susceptibility and possible autosomal recessive inheritance. More often, the cases are sporadic.2
The Mounier-Kuhn syndrome has 3 subtypes. In type 1, there is a slight symmetric dilation in the trachea and main bronchi. In type 2, the dilation and diverticuli are distinct. In type 3, diverticular and saccular structures extend to the distal bronchi. The main problems associated with this disease are ineffectual cough resulting from pathologic dilation of the tracheobronchial tree and the impairment of mucociliary apparatus activity. These lead to difficulties in expectorating secretions and recurrent lower respiratory tract infections.3 Symptoms are nonspecific. In the absence of infection, this disease process can be asymptomatic. Bronchiectasis and lower respiratory tract infections are clinically prominent; thus, the recurrent pneumonias and fibrosis can eventually occur.3–5 In the aforesaid case, the productive cough was predominant and taking into consideration the fact that the patient was a smoker and worked in a noxious environment, the symptoms were attributed to COPD and bronchiectasis.
The diagnosis is often made by CT scans, which shows abnormally large airways. In adults, the diagnostic criteria are: diameters of the trachea >30 mm; of the right main bronchus >20 mm; and of the left main bronchus >18 mm.5–7
On pulmonary function testing, decreased flow, increased tidal volume, and dead space can be observed.8 Bronchoscopy can detect the pathologic processes that affect the tracheobronchial structures—especially, the dilation in trachea and main bronchi during inspiration and even their collapse during expiration and coughing.
In this case, the diagnosis was delayed, the patient being treated for several years as a case of COPD. The frequency of the infectious exacerbations during the year before admission motivated the decision to perform a bronchoscopy, an investigation that settled the final diagnosis and changed the therapeutic approach of the case.
The recurrent respiratory infections with no therapeutic response were likely explained by the anatomic modifications from airway collapse with the retention of the secretions and by the existence of cystic bronchiectasis seen on bronchography.
Differential diagnosis is also considered in relation to other connective tissue diseases, the ataxia-telangiectasia, ankylosing spondylitis, Ehlers-Danlos syndrome, Marfan syndrome, Kenny-Caffey syndrome, Brachmann-de Lange syndrome, and cutis laxa (elastolysis), which are also associated with secondary tracheobronchial enlargement. In addition, sarcoidosis, diffuse interstitial pneumonia, and cystic fibrosis may determine secondary tracheomegaly due to fibrotic tractions during their evolution.8,9
Asymptomatic patients require no specific treatment. Smoking cessation is highly beneficial, as is the minimization of exposure to industrial and occupational irritants and pollutants. In symptomatic patients the therapy is supportive, limited to respiratory physiotherapy for eliminating secretions and antibiotic use during infectious exacerbations. Although tracheal stenting has been helpful in the severe cases, this intervention is rarely performed because of the diffuse nature of the disease and inability to clear secretions as well as long-term complications from the airway stents. Lung transplantation provided no confirmed benefit concerning the risk of morbidity and death.10
The particularities of this case consist in the delayed diagnosis. This patient was previously diagnosed with COPD and diffused interstitial lung disease due to occupational environment and was accordingly treated with no satisfactory response to repeated treatments. In addition, there was discordance between marked exertional dyspnea and the pulmonary function tests, which were just slightly altered. The bronchoscopy and CT scanswere performed late in the course of his disease but eventually established the diagnosis of tracheobronchomegaly.
In conclusion, the bronchoscopic examination is relevant in selected patients with COPD with refractory symptoms to treatment. This case highlights the importance of recognizing central airway disorders as imitators COPD.
The American Association for Bronchology and Interventional Pulmonology (AABIP) is inviting applications for research awards. Award applications should be related to the study of interventional pulmonology (IP).
FUNDING: One awards of up to $20,000 per year with a possibility of renewal for one more year. No more than 10% of the awarded amount can be used to support the salary of investigators. Travel costs and publication charges will be limited to $1000 each.
APPLICANTS: Applicants should be a permanent resident, or on an appropriate working visa, of the US or Canada. The study supported by AABIP must be carried out in the United States or Canada at an accredited medical institution in the discipline of IP. Preference will be given to individuals who are within 10 years of the end of formalized training. If the applicant is currently in training the application should clearly outline the mentoring environment of the institution and the qualifications of the mentor supervising the study. Applicants should be members in good standing of the AABIP. The applicant must submit a study budget and a letter from the department chair and the institutional grants office to show that the institution where research will be carried out has the infrastructure to carry out such research. These items include:
- Internal Review Board (IRB)
- Health Information Patient Privacy Act (HIPPA) compliance certificate
- Federal Wide Assurance Certificate or its number
- Institutional and personal certificate of Human research compliance
- Institutional and personal certificate of Animal research compliance (if animal research is part of the application)
- Financial accountability structure
DATA, PUBLICATION AND POTENTIAL FOR FUNDING FOR 2ND YEAR: • If the applicant seeks a second year of funding, the AABIP research committee will review the data accumulated in the first half of the study to consider granting another year of funding. These applications will be reviewed with other new and renewal applications for a fair competition. • AABIP REQUIRES that the data generated from the study supported by it’s funding be presented at the annual AABIP meeting (usually at the post graduate course on the first day of American College of Chest Physicians meeting (ACCP)-CHEST). • AABIP also REQUIRES the recipient to submit their work/manuscript for publication to Journal of Bronchology and Interventional Pulmonology). The manuscript will only be published if it is accepted by the journal in accordance with its peer review criteria. The publication should mention the funding source as AABIP. AABIP ENCOURAGES the recipient to present their preliminary or final results at the AABIP research symposium held during ACCP and ATS (American Thoracic Society) meetings.
APPLICATION PROCESS: Applications should follow an NIH style format. The background, preliminary data, specific aims and research design is limited to 8 pages. In addition, an NIH formatted biosketch for each investigator should be submitted. The application must be submitted on line through the AABIP website. The deadline for application submission is 11:59 PM ET July 1st, 2014. A scientific review of the submitted applications and the results of the funding decisions will be sent to applicants by October 1st, 2014. Release of funding will be November 1st, 2014. For templates and more detailed instructions, please contact the AABIP at email@example.com.
For inquiries and general questions please contact research committee chairman, Ali I. Musani, MD (firstname.lastname@example.org).
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7. Jaiswal AK, Munjal S, Singla R, et al..A 46-year-old man with tracheomegaly, tracheal diverticulosis, and bronchiectasis: Mounier-Kuhn syndrome.Lung India.2012;29:176–178.
8. Ghanei M, Peyman M, Aslani J, et al..Mounier-Kuhn syndrome: a rare cause of severe bronchial dilatation with normal pulmonary function test: a case report.Respir Med.2007;101:1836–1839.
9. Noori F, Abduljawad S, Suffin DM, et al..Mounier-Kuhn syndrome: a case report.Lung.2010;188:353–354.
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tracheobronchomegaly; bronchoscopy; bronchography; respiratory tract infection; CT scan
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