Williams-Campbell syndrome

November 1, 2008

A 38-year-old man with a history of asthma and sinus disease was referred to our pulmonary clinic for chronic productive cough with clear sputum. He denied hemoptysis, fevers, chills, wheezing, and dyspnea. He initially presented with an asthma exacerbation that required antibiotics and a course of prednisone.

CLINICAL HISTORY

A 38-year-old man with a history of asthma and sinus disease was referred to our pulmonary clinic for chronic productive cough with clear sputum. He denied hemoptysis, fevers, chills, wheezing, and dyspnea. He initially presented with an asthma exacer-bation that required antibiotics and a course of prednisone. CT chest acquired in 2001 demonstrated central bronchiectasis of unknown etiology. He had not returned to the clinic.

IMAGING FINDINGS

PA chest radiograph (Figure 1) demonstrates increased lung volumes with flattening of the diaphragm. Branching tubular opacities, tram-tracks, and ring shadows represent bronchiectasis with mucus plugging. The trachea and main bronchi are normal. Chest CT and minimum intensity projection images demonstrate central cylindrical/cystic bronchiectasis involving segmental/subsegmental bronchi, bronchial wall thickening with air/fluid levels, and mucus plugging (Figure 2A-D).

DIFFERENTIAL DIAGNOSIS

Differential diagnosis includes cystic fibrosis, allergic bronchopulmonary aspergillosis, α-1 antitrypsin deficiency, immunoglobulin deficiency, radiation fibrosis, tuberculosis, immotile (dyskinetic) cilia syndrome, Mounier-Kuhn syndrome, and Williams-Campbell syndrome.

DIAGNOSIS

Williams-Campbell (WC) syndrome.

DISCUSSION

WC syndrome is a rare congenital bronchiectasis due to deficiency in cartilage of the third- to sixth-order generation bronchi. In 1960, Williams and Campbell first reported the unusual pattern of bronchiectasis in five patients whose disease presented in infancy with similar clinical features. They noted markedly compliant, soft central bronchi that ballooned on inspiration and collapsed on expiration.

WC syndrome usually presents in childhood with recurrent pneumonias and broncho-obstructive symptoms such as coughing and wheezing; adult cases have been reported. The symptoms and prognosis ultimately depend on the extent of cartilage maldevelopment of the bronchi. CT imaging demonstrated bilateral cylindrical/cystic bronchiectasis distal to the third-generation bronchi (segmental/subsegmental) with hyperinflation of lung. Given the deficiency in bronchial cartilage, expiratory CT showed collapse of bronchi with distal air trapping, the result of an excessively compliant bronchial wall. The trachea and central bronchi remained normal in caliber, a distinguishing feature of this disease. The cause for the deficiency in cartilage is not well understood; no evidence suggests that the cartilage deficiency occurs outside of the bronchi.

CT imaging demonstrated bilateral cylindrical/cystic bronchiectasis distal to the third-generation bronchi (segmental/subsegmental) with hyperinflation of lung. Given the deficiency in bronchial cartilage, expiratory CT showed collapse of bronchi with distal air trapping, the result of an excessively compliant bronchial wall. The trachea and central bronchi remained normal in caliber, a distinguishing feature of this disease.

The cause for the deficiency in cartilage is not well understood; no evidence suggests that the cartilage deficiency occurs outside of the bronchi. A sequence of events has been hypothesized in which children who are born with a cartilaginous defect in bronchi suffer a viral respiratory infection in infancy. The compliant bronchi collapse during coughing, leading to poor airway drainage. Subsequently, progressive obstructive disease develops, causing hyperinflation of lung and segmental or lobar collapse.

The diagnosis of WC syndrome was made on the basis of clinical pres-entation and CT imaging appearance. Laboratory studies including CBC with differential, total eosinophil count, IgE level, quantitative immunoglobulins, α-1 antit-rypsin level were normal. Serum precipitin for aspergillus and PPD tuberculosis skin test were negative. The patient had no history of undergoing radiation therapy. WC syndrome (normal trachea and main bronchi) was distinguished from Mounier-Kuhn syndrome (marked dilatation of the trachea and main bronchi).There is no specific treatment for WC syndrome. Maintenance of bronchial hygiene and treat-ment of acute exacerbations remain the basis of treatment.

Case submitted by Jayant Boolchand, who is a visiting fourth-year medical student from Chicago Medical School. Sandra A.A. Oldham, M.D., and Emma C. Ferguson, M.D., are both at the University of Texas-Houston Health Sciences Center. Eugene A. Berkowitz, M.D., Ph.D., is with the Emory University Medical School/Emory Clinic in Atlanta.