Síndrome de Mounier-Kuhn / Mounier-Kuhn Syndrome

El síndrome de Mounier-Kuhn o traqueobroncomegalia constituye una rara entidad clínica y radiológica caracterizada por una dilatación de la tráquea y los bronquios principales. Puede asociarse con estructuras saculares en las membranas intercartilaginosas (diverticulosis traqueal), bronquiectasias e infecciones respiratorias a repetición. Las formas de presentación clínica son variables. Tiene una prevalencia entre el 1-4,5 por ciento de la población y se presenta, mayoritariamente, en hombres con un amplio rango etario que oscila entre los 20 y 50 años de edad. Se presenta el caso de un paciente masculino de 77 años con cuadros de infecciones respiratorias bajas a repetición desde la juventud. Luego de realizarle estudios de imagen y broncoscopia, se llegó al diagnóstico de síndrome de Mounier-Kunh. Recibió tratamiento antibiótico inmediatamente y su evolución fue de manera satisfactoria(AU)

Mounier-Kuhn syndrome or tracheobroncomegaly is a rare clinical and radiological entity characterized by dilatation of the trachea and the main bronchi. It can be associated with saccular structures in the intercartilaginous membranes (tracheal diverticulosis), bronchiectasis, and recurrent respiratory infections. The forms of clinical presentation vary. It has a prevalence between 1-4.5 percent of the population and it occurs mainly in men, widely ranging ages between 20 and 50 years of age. We report the case of a 77-year-old male patient with recurrent lower respiratory infections since his youth. After performing imaging studies and bronchoscopy, he could be diagnosed with Mounier-Kunh syndrome. He immediately underwent antibiotic treatment and his evolution was satisfactory(AU)

Improving Airways Patency and Ventilation Through Optimal Positive Pressure Identified by Noninvasive Mechanical Ventilation Titration in Mounier-Kuhn Syndrome: Protocol for an Interventional, Open-Label, Single-Arm Clinical Trial.

BACKGROUND: Mounier-Kuhn syndrome or congenital tracheobronchomegaly is a rare disease characterized by dilation of the trachea and the main bronchi within the thoracic cavity. The predominant signs and symptoms of the disease include coughing, purulent and abundant expectoration, dyspnea, snoring, wheezing, and recurrent respiratory infection. Symptoms of the disease in some patients are believed to be pathological manifestations arising due to resident tracheobronchomalacia. Although treatment options used for the management of this disease include inhaled bronchodilators, corticosteroids, and hypertonic solution, there is no consensus on the treatment. The use of continuous positive airway pressure (CPAP) has been reported as a potential therapeutic option for tracheobronchomalacia, but no prospective studies have demonstrated its efficacy in this condition. OBJECTIVE: The purpose of this is to identify the presence of tracheobronchomalacia and an optimal CPAP pressure that reduces the tracheobronchial collapse in patients with Mounier-Kuhn syndrome and to analyze the repercussion in pulmonary ventilation. In parallel, we aim to evaluate the prevalence of obstructive sleep apnea/hypopnea syndrome. METHODS: This interventional, open-label, single-arm clinical trial will enroll patients who are diagnosed Mounier-Kuhn syndrome. Patient evaluation will be conducted in an outpatient clinic and involve 3 visits. Visit 1 will involve the collection and registration of social demographic, clinical, and functional data. Visit 2 will entail polysomnography, bronchoscopy for the evaluation of tracheobronchomalacia, titration of the optimal pressure that reduces the degree of collapse of the airway, and electrical impedance tomography. In visit 3, patients exhibiting a reduction in collapse areas will be requested to undergo chest computed tomography during inspiration and forced expiration with and without positive pressure (titrated to determine optimal CPAP pressure). RESULTS: This protocol is a doctorate project. The project was submitted to the institutional review board on January 24, 2017, and approval was granted on February 2, 2017 (Brazilian Research database number CAAE 64001317.4.000.0068). Patient evaluations started in April 2018. Planned recruitment is based on volunteers' availability and clinical stability, and interventions will be conducted at least once a month to finish the project at the end of 2020. A preliminary analysis of each case will be performed after each intervention, but detailed results are expected to be reported in the first quarter of 2021. CONCLUSIONS: There is no consensus on the best treatment options for managing Mounier-Kuhn syndrome. The use of positive pressure could maintain patency of the collapsed airways, functioning as a "pneumatic stent" to reduce the degree of airflow obstruction. This, in turn, could promote mobilization of thoracic secretion and improve pulmonary ventilation. TRIAL REGISTRATION: ClinicalTrails.gov NCT03101059; https://clinicaltrials.gov/ct2/show/NCT03101059. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/14786.

Thoracic Computed Tomography Scan and Bronchoscopy Appearance of Mounier-Kuhn Syndrome: A Case Report.

Mounier-Kuhn syndrome (MKS) is a rare congenital disease with an autosomal recessive inheritance pattern, characterized by an enlargement of the trachea and bronchi. MKS is secondary to a thinning of the muscular mucosa and atrophy of the longitudinal muscle and elastic fibers of the tracheobronchial tree. As a consequence, tracheal diverticulosis and dilatations in the posterior membranous wall appear, along with bronchiectasis that tend to be cystic in appearance. Overall, there is an impairment of mucocilliary clearance, with an ineffective cough, which predisposes the patient to recurrent lower respiratory tract infections. Clinical manifestations vary from asymptomatic to respiratory failure and death, most patients being diagnosed between the third and fourth decades of life. It is an often undiagnosed disease, with a diagnostic algorithm that includes the use of radiological techniques, alone or in combination with bronchoscopy. Specific diagnostic criteria have been developed, based on patients' tracheal and main bronchi diameter on chest X-ray and thoracic computed tomography scan. We present the case of a 45-year-old African American man who presented with a history of multiples episodes of pneumonia that required management in the intensive care unit, on whom MKS was diagnosed.

Síndrome de Mounier Kuhn en una paciente de 78 años con fibrosis pulmonar / Mounier Kuhn syndrome in a 78-year-old patient with pulmonary fibrosis

Resumen Se presenta el caso de una mujer de 78 años de edad con fibrosis pulmonar idiopàtica, quien consultó por exacerbación de sus síntomas respiratorios, a quien se le realizan estudios radiológicos, donde se evidencia dilatación de la vía aérea, previamente no descrita, y se realiza diagnóstico de síndrome de Mounier Kuhn. Hasta donde el conocimiento alcanza, es el primer caso reportado en Colombia y la tercera persona de mayor edad reportada en el mundo. Este es un hallazgo incidental, dado que desde el punto de vista fisiopatológico no hay ninguna relación causal entre la fibrosis pulmonar idiopática y el síndrome de Mounier Kuhn. Sin embargo, su presencia puedo afectar aún más el compromiso funcional, dado el eventual colapso de la vía aérea, lo cual puede llevar a intervenciones terapéuticas adicionales, como colocación de stent. (Acta Med Colomb 2017: 42-198-201).

Abstract The case of a 78-year-old woman with idiopathic pulmonary fibrosis who consulted for exacerbation of her respiratory symptoms is presented. Radiologic studies showed dilation of the airway that was not previously described, and for this reason the diagnosis of Mounier Kuhn Syndrome was made. To our knowledge, this is the first case reported in Colombia and the third oldest person reported in the world. This is an incidental finding, since from the pathophysiological point of view there is no causal relationship between idiopathic pulmonary fibrosis and Mounier Kuhn's syndrome. However, its presence may further affect the functional compromise, given the eventual collapse of the airway, which may lead to additional therapeutic interventions, such as stent placement. (Acta Med Colomb 2017: 42-198-201).

Traqueobroncomegalia: a propósito de un caso clínico-radiológico / Tracheobronchomegaly: a case report

Tracheobronchomegaly corresponds to the anomalous diffuse dilatation of the trachea and main bronchi, usually accompanied by bronchiectasis, which predisposes to recurrent infections. The imaging study is essential to recognize this entity. A case of a 40-year-old woman, with suspicion of bronchial asthma is presented. Imaging study and bronchofiberscopy confirmed the diagnosis of tracheobronchomegaly in this patient.

La traqueobroncomegalia corresponde a la dilatación anómala y difusa de la tráquea y bronquios principales, acompañado habitualmente de bronquiectasias, lo que predispone a infecciones recurrentes. El estudio radiológico resulta fundamental para reconocer esta entidad. Se presenta un caso de una mujer de 40 años en estudio por sospecha de asma bronquial en que el estudio de imágenes (Rx y TAC) y lafibrobroncoscopia confirmó el diagnóstico de traqueobroncomegalia.

Infección respiratoria causada por Alcaligenes xylosoxidans en un paciente con síndrome de Mounier-Kuhn / Case report: respiratory infection due to Alcaligenes xylosoxidans in a patient with Mounier-Kuhn syndrome

Mounier-Kuhn syndrome is a rare entity characterized by abnormal dilatation of the trachea and main bronchi (tracheobronchomegaly). Alcaligenes xylosoxidans is a non fermenting gram-negative pathogen common in extra-and intra-hospital environment, which may be related to immunosuppression states. We describe the case of a 75 years old male, ex-smoker with moderate functional obstruction, chronic respiratory failure and chronic colonization by Pseudomonas aeuriginosa. He had an infectious exacerbation of his disease, reason that previously required several hospital admissions. The patient was treated with antibiotics and his evolution was favourable with negativization in cultures of the pathogen. This is the first description of the isolation of Alcaligenes xylosoxidans as a cause of respiratory infection in a patient with Mounier-Kuhn syndrome.