Genetic and Developmental Disorders: Genetic Disorders |

The Natural Course of Mounier-Kuhn Syndrome: An Underdiagnosed Disease FREE TO VIEW

Emerens Wensink, MD; Leontine van Elden, PhD
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Diakonessenhuis Utrecht, Utrecht, Netherlands

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;149(4_S):A242. doi:10.1016/j.chest.2016.02.252
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SESSION TITLE: Genetic Disorders

SESSION TYPE: Case Report Slide

PRESENTED ON: Saturday, April 16, 2016 at 02:15 PM - 03:45 PM

INTRODUCTION: Mounier-Kuhn Syndrome is defined as a combination of pathologically enlarged and flaccid trachea and bronchi, with or without diverticula, resulting in recurrent respiratory tract infections1. The disease is rare, having been described in less than 400 patients worldwide2.

CASE PRESENTATION: A 65-year-old non-smoker male patient with a history of bronchial asthma and suspected hypersensitivity pneumonitis due to pigeon exposure is presented, with medical data available spanning fifteen years of routine examinations. The patient presented anew in 2014 with recurrent respiratory tract infections, ineffective sputum clearance and uncontrolled asthma. The spirometry results had markedly worsened compared to earlier. The pigeon precipitin test results were positive but HRCT findings were not suggestive of an extrinsic allergic alveolitis. However, HRCT imaging revealed tracheobronchomegaly, with tracheal and bronchial diverticula and bronchiectasis compatible with Mounier-Kuhn Syndrome (Figure 1). In retrospect, HRCT scans from another hospital eight years earlier also demonstrated signs of tracheobronchomegaly, diverticula and bronchiectasis. Bronchoscopy was performed supporting the diagnosis of Mounier-Kuhn Syndrome (Figure 2). The patient was treated with appropriate antibiotics in addition to other supportive measures. The patient’s symptoms and pulmonary function improved under the given treatment.

DISCUSSION: The described case report offers a rare insight into the natural course of the progression of an undiagnosed Mounier-Kuhn Syndrome, with an evaluation of the changes in imaging and pulmonary functions over time. The prognosis of patients with Mounier-Kuhn Syndrome is largely unknown, due to a lack of follow-up data2. Factors affecting disease progression in patients have not been studied2. This case supports early diagnosis in patients with Mounier-Kuhn Syndrome, so that a decline in respiratory function resulting from possible complications of Mounier-Kuhn Syndrome may be prevented.

CONCLUSIONS: Clinicians should be aware of an underlying Mounier-Kuhn Syndrome in patients with recurrent respiratory tract infections and uncontrolled asthma, in order to avoid complications associated with the disease.

Reference #1: Shin MS, Jackson RM, Ho K-J. Tracheobronchomegaly (Mounier-Kuhn Syndrome): CT Diagnosis. AJR. 1988;(150):777-779.

Reference #2: Krustins E. Mounier-Kuhn syndrome: a systematic analysis of 128 cases published within last 25 years. Clin Respir J. 2014:Epublished ahead of print. doi: 10.1111/crj.12192.

DISCLOSURE: The following authors have nothing to disclose: Emerens Wensink, Leontine van Elden

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