The clinical manifestations, diagnosis and management of williams-campbell syndrome

Aldave, Adrian Pedro Noriega; Saliski, DO William

doi:10.4103/1947-2714.141620

Cited by 29 publications

(16 citation statements)

References 18 publications

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“…Additionally, these patients also suffer from recurrent pulmonary infections, functional class deterioration, and clubbing. 12 On thoracic CT, distal cystic bronchiectasis are found with expiratory collapse on dynamic CT. A useful tool to differentiate among WKS and MKS is virtual bronchoscopy, where the absence of cartilage rings is clearly seen. 13 , 14 In this case, the differentiation between these 2 entities is easy since our patient’s compromise began on the trachea plus there is evidence of normal bronchial cartilage rings ( Figure 2E and F ).…”

Section: Discussionmentioning

confidence: 99%

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

Fernández-Trujillo

Sangiovanni

Morales

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%

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

Fernández-Trujillo

Sangiovanni

Morales

et al. 2020

Journal of Investigative Medicine High Impact Case Reports

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“…For example, Down syndrome may be associated with immunodeficiency, incoordinate swallow, GOR and tracheomalacia . Other syndromes which may be complicated by bronchiectasis include Marfan's, Yellow Nail (typical dystrophy, may be a positive family history and lymphoedema), velocardiofacial, ataxia telangiectasia (also multifactorial, immunodeficiency and incoordinate swallow both contributing), Mounier‐Kuhn (tracheobronchomegaly) and Williams Campbell syndrome (congenital bronchomalacia) . Ataxia telangiectasia presents particular diagnostic problems because of the radiosensitivity of these patients, limiting the amount of diagnostic X‐rays which can be performed.…”

Section: Causes Of Bronchiectasismentioning

confidence: 99%

Pathophysiology, causes and genetics of paediatric and adult bronchiectasis

Bush

Floto

2019

Respirology

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Bronchiectasis has historically been considered to be irreversible dilatation of the airways, but with modern imaging techniques it has been proposed that 'irreversible' be dropped from the definition. The upper limit of normal for the ratio of airway to arterial development increases with age, and a developmental perspective is essential. Bronchiectasis (and persistent bacterial bronchitis, PBB) is a descriptive term and not a diagnosis, and should be the start not the end of the patient's diagnostic journey. PBB, characterized by airway infection and neutrophilic inflammation but without significant airway dilatation may be a precursor of bronchiectasis, and there are many commonalities in the microbiology and the pathology, which are reviewed in this article. A high index of suspicion is essential, and a history of chronic wet or productive cough for more than 4-8 weeks should prompt investigation. There are numerous underlying causes of bronchiectasis, although in many cases no cause is found. Causes include post-infectious, especially after tuberculosis, adenoviral or pertussis infection; aspiration syndromes; defects in host defence, which may solely affect the airways (cystic fibrosis, not considered in this review, and primary ciliary dyskinesia); and primary ciliary dyskinesia or be systemic, such as common variable immunodeficiency; genetic syndromes; and anatomical defects such as intraluminal airway obstruction (e.g. foreign body), intramural obstruction (e.g. complete cartilage rings) and external airway compression (e.g. by tuberculous lymph nodes). Identification of the underlying cause is important, because some of these conditions have specific treatments and others genetic implications for the family.

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“…Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia (Fig. 5a and b) [13]. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging [14].…”

Section: Congenital Conditionsmentioning

confidence: 99%

Beyond bronchitis: a review of the congenital and acquired abnormalities of the bronchus

et al. 2016

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Anomalies of the bronchus can be both congenital and acquired. Several different congenital aberrations of the bronchial anatomy are commonly encountered including tracheal bronchus, accessory cardiac bronchus, and bronchial agenesis/aplasia/hypoplasia. In addition, Williams-Campbell syndrome and cystic fibrosis are two other congenital conditions that result in bronchial pathology. Acquired pathology affecting the bronchi can typically be divided into three broad categories of bronchial disease: bronchial wall thickening, dilatation/bronchiectasis, and obstruction/stenosis. Bronchial wall thickening is the common final response of the airways to irritants, which cause the bronchi to become swollen and inflamed. Bronchiectasis/bronchial dilatation can develop in response to many aetiologies, including acquired conditions such as infection, pulmonary fibrosis, recurrent or chronic aspiration, as well as because of congenital conditions such as cystic fibrosis. The causes of obstruction and stenosis are varied and include foreign body aspiration, acute aspiration, tracheobronchomalacia, excessive dynamic airway collapse, neoplasm, granulomatous disease, broncholithiasis, and asthma. Knowledge of normal bronchial anatomy and its congenital variants is essential for any practicing radiologist. It is the role of the radiologist to identify common imaging patterns associated with the various categories of bronchial disease and provide the ordering clinician a useful differential diagnosis tailored to the patient’s clinical history and imaging findings. Teaching Points • Bronchial disorders are both congenital and acquired in aetiology.• Bronchial disease can be divided by imaging appearance: wall thickening, dilatation, or obstruction.• Bronchial wall thickening is the common final response of the airways to irritants.• Imaging patterns must be recognised and the differential diagnosis tailored for patient management.

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The clinical manifestations, diagnosis and management of williams-campbell syndrome

Cited by 29 publications

References 18 publications

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

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

Pathophysiology, causes and genetics of paediatric and adult bronchiectasis

Beyond bronchitis: a review of the congenital and acquired abnormalities of the bronchus

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