Journal Article

A case of tracheobronchomegaly misdiagnosed as COPD: case report and literature review

Hua, Mao, Li, Weiran, Yuan, Sai

2025

Overview

Background Tracheobronchomegaly, also known as Mounier-Kuhn syndrome (MKS), is a rare congenital condition characterized by significant dilation of the trachea and main bronchi along with an abnormal wall structure. Diagnosis can be confirmed through computed tomography, pulmonary function tests, and diagnostic bronchoscopy. Currently, there is no curative treatment for MKS; thus, symptomatic and supportive care remain the primary therapeutic approaches. Early diagnosis, effective infection control, and individualized management are crucial for improving patient outcomes. Methods This case report describes a middle-aged woman who presented with chronic cough, expectoration, and wheezing. She had been misdiagnosed with chronic obstructive pulmonary disease (COPD) at a local hospital for an extended period and was subsequently referred to our institution for fiberoptic bronchoscopy, which confirmed the diagnosis of MKS. By reviewing the literature via PubMed, we conducted a retrospective analysis of 29 previously reported cases of MKS, including the present case, totaling 30 cases (21 males and 9 females), predominantly middle-aged and elderly individuals. Conclusions Based on our literature review, the misdiagnosis rate of MKS remains high, often accompanied by significant diagnostic delays. Additionally, the proportion of secondary MKS cases has increased, challenging the traditional notion that MKS is exclusively congenital. Despite its rarity, clinicians should consider MKS in patients presenting with recurrent lower respiratory tract infections, abnormal tracheobronchial morphology., poor response to antibiotic therapy, or refractory COPD-like symptoms. Early imaging and bronchoscopic evaluations are essential to confirm the diagnosis and prevent delayed treatment.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Airway management / Analysis / Asthma / Bronchoscopy / Bronchus / Care and treatment / Case Report / Case reports / Chronic obstructive pulmonary disease / Comparative analysis / Computed tomography / Congenital diseases / Connective tissue diseases / COPD / Cough / Cough - etiology / Critical Care Medicine / Diagnosis / Diagnostic Errors / Diseases / Dyspnea / Female / Hospitals / Humans / Infections / Inflammation / Intensive / Internal Medicine / Literature reviews / Lung diseases / Lung diseases, Obstructive / Medical treatment / Medicine / Medicine & Public Health / Middle age / Middle Aged / Mounier-Kuhn syndrome / Patients / Pneumology/Respiratory System / Pneumothorax / Prevention / Pulmonary arteries / Pulmonary Disease, Chronic Obstructive - diagnosis / Pulmonary function tests / Relapsing polychondritis / Respiratory function / Respiratory tract infection / Smooth muscle / Tomography / Tomography, X-Ray Computed / Trachea / Tracheobronchomalacia / Tracheobronchomegaly / Tracheobronchomegaly - diagnosis / Tracheobronchomegaly - diagnostic imaging / Wheezing