Williams-Campbell Syndrome: An Elusive Cause of Bronchiectasis

M. Naddour1, M. Kalani2, A. Singh2;

Author address: 

1Allegheny Health Network, Pittsburgh, PA, United States, 2Allegheny General Hospital,, Pittsburgh, PA, United States.

Abstract: 

Introduction: Williams-Campbell syndrome is a rare congenital disorder that is primarily described in the pediatric literature. We present a 44-year-old male with Williams-Campbell syndrome. Case report: 44-year-old African American male, never smoker, who presents with history of 20 years of dyspnea, chronic productive cough, and recurrent purulent skin infections. CT chest showed bilateral bronchiectasis. Patient denied family history of cystic fibrosis or significant occupational exposure. Pulmonary function test showed mixed restrictive and obstructive process. Complete work up including immunoglobulin levels, autoimmune panels, alpha-1 antitrypsin level, protein electrophoresis, Aspergillus antibody and immunodeficiency workup was negative. Bronchoscopy was conducted, and bacterial, fungal and AFB cultures were negative. The patient was diagnosed with Williams-Campbell syndrome due to characteristic radiological features and exclusion of other etiologies. Discussion: Williams-Campbell syndrome is a rare congenital disorder that is predominantly described in the pediatric literature. This disorder is due to congenital cartilage deficiency in subsegmental bronchi leading to cystic bronchiectasis and collapse of airway during expiration. Although it is more common in pediatric population, only a handful of adult cases have been reported in the literature. Diagnosis is based on history, exclusion of other etiologies for bronchiectasis and radiological findings of characteristic features. These include cystic bronchiectasis distal to the third-generation bronchi with hyperinflation of the lung during inspiration, and collapse of bronchiectatic lung during expiration while the trachea and bronchi remain in normal diameter. Pathology of the bronchial wall exhibiting deficiency of cartilaginous plates is the confirmatory test, however lung biopsy carries multiple complications and may not be diagnostic. No definitive treatment is available. Patients are commonly treated with prophylactic antibiotics and chest physiotherapy. Lung transplant may be an option, however definitive guidelines are not established. Conclusion: Williams-Campbell syndrome is a rare congenital disorder that may present in adulthood, and should be considered in the differential for patients with elusive bronchiectasis.

2018

abstract No: 

A6704 / P725

Full conference title: 

The American Thoracic Society Conference 2018
    • ATS 2018