A 62-year-old man attended the emergency department, complaining of cough and respiratory distress. The patient denied fever and reported a history of chronic cough that had worsened for the last five years, with crises of respiratory distress which he had never experienced before. According to the patient, he suffered from asthma from his childhood, with bronchitis crises which worsen with physical activity, weather changes or exposure to dust and mold. The patient was formerly a smoker during 26 years and quitted smoking for twenty years. He denied regular clinical follow-up or previous treatments. He usually attends the emergency department and has already been admitted for treatment of some pneumonias. At auscultation, the patient presented with crepitations and stertors in the lung bases and wheezing. Chest radiography was requested and demonstrated sparse reticular opacities more extensively located in the right lower lobe, besides bronchiectasis. In order to deepen the investigation, chest computed tomography was requested (Figures 1 and 2).
High resolution computed tomography with sections of the middle and lower pulmonary regions.
Images description
Figures 1 and 2. Chest computed tomography images demonstrate the presence of thin walled cystic bronchiectasis diffusely distributed throughout the lungs. Trachea, main bronchi and lobar bronchi are not affected by the disease.
Diagnosis
Williams-Campbell syndrome.
COMMENTS
Williams-Campbell syndrome is a rare, congenital condition caused by a deficiency of cartilage in the subsegmental bronchi, leading to bronchiectasis and distal airways collapse(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.). The cartilage rings deficiency in the fourth- to sixth-order bronchi results in distal bronchiectasis, with the trachea and main bronchi remaining intact(33 George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology. 2006;11:117–9.).
Such a syndrome is commonly described in children with a history of recurrent pneumonias and obstructive symptoms; and is occasionally diagnosed in adult individuals(22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.–44 Cantin L, Bankier AA, Eisenberg RL. Bronchiectasis. AJR Am J Roentgenol. 2009;193:W158–71.). There are descriptions of familial occurrence, suggesting the necessity of investigation of all the family members(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,55 McAdams HP, Erasmus J. Chest case of the day. Williams-Campbell syndrome. AJR Am J Roentgenol. 1995;165:190–1.). Clinical symptoms include cough, wheezing and recurrent pneumonias(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,55 McAdams HP, Erasmus J. Chest case of the day. Williams-Campbell syndrome. AJR Am J Roentgenol. 1995;165:190–1.). Respiratory function tests demonstrate an obstructive pattern and, in advanced disease may present a mixed pattern. The cartilage deficiency changes the bronchial physiology, causing dilatation during inspiration and collapse at expiration, determining hyperinsuflation and segmental/lobar collapse(33 George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology. 2006;11:117–9.,55 McAdams HP, Erasmus J. Chest case of the day. Williams-Campbell syndrome. AJR Am J Roentgenol. 1995;165:190–1.). Such alteration leads to air trapping, impairing the airway drainage and resulting in secretion accumulation(33 George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology. 2006;11:117–9.,44 Cantin L, Bankier AA, Eisenberg RL. Bronchiectasis. AJR Am J Roentgenol. 2009;193:W158–71.). The recurrent destruction of the bronchial tree and inappropriate mucus drainage result in parenchymal destruction distally to the bronchiectasis. The symptoms severity and disease prognosis depend on the degree and extent of the cartilage involvement(22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.).
The imaging finding at conventional radiography corresponds to symmetrical bronchiectasis. High resolution computed tomography demonstrates distal, cystic bronchiectasis in fourth- to sixth-order bronchi, with variable extent and no involvement of the trachea and main bronchi(22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.). Normality of the proximal bronchial tree is typical of the syndrome and is the main finding for differentiation with Mounier-Kuhn syndrome (tracheobronchomalacia)(55 McAdams HP, Erasmus J. Chest case of the day. Williams-Campbell syndrome. AJR Am J Roentgenol. 1995;165:190–1.,66 Marom EM, Goodman PC, McAdams HP. Diffuse abnormalities of the trachea and main bronchi. AJR Am J Roentgenol. 2001;176:713–7.). Additionally, mucoid impaction is observed in some bronchi, predominantly in the lower lobes, besides concomitant findings of infectious disease characterized by a tree-in-bud pattern. Also, a mosaic attenuation pattern may be observed(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.).
The diagnosis is based on clinical and tomographic findings in addition to the previous and familial history of the patient, besides laboratory tests to rule out other hypotheses. No significant finding is observed at bronchoscopy(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.).
The main differential diagnosis is Mounier-Kuhn syndrome (tracheobronchomalacia), besides alpha-1 antitrypsin, cystic fibrosis, allergic bronchopulmonary aspergillosis and ciliary diskynesia syndrome(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,22 Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.,44 Cantin L, Bankier AA, Eisenberg RL. Bronchiectasis. AJR Am J Roentgenol. 2009;193:W158–71.).
There is no specific treatment for Williams-Campbell syndrome, and prophylaxis and management of exacerbations represent the main method of treatment based on respiratory physiotherapy and antibiotic therapy. The literature includes the description of some cases of pulmonary transplant, though without great success. In one of such cases, the post-mortem finding was post-transplant brochomalacia(11 Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.,33 George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology. 2006;11:117–9.,77 Burguete SR, Levine SM, Restrepo MI, et al. Lung transplantation for Williams-Campbell syndrome with a probable familial association. Respir Care. 2012;57:1505–8.).
REFERENCES
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1Konoglou M, Porpodis K, Zarogoulidis P, et al. Williams-Campbell syndrome: a case report. Int J Gen Med. 2012;5:41–4.
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2Di Scioscio V, Zompatori M, Mistura I, et al. The role of spiral multidetector dynamic CT in the study of Williams-Campbell syndrome. Acta Radiol. 2006;47:798–800.
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3George J, Jain R, Tariq SM. CT bronchoscopy in the diagnosis of Williams-Campbell syndrome. Respirology. 2006;11:117–9.
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4Cantin L, Bankier AA, Eisenberg RL. Bronchiectasis. AJR Am J Roentgenol. 2009;193:W158–71.
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5McAdams HP, Erasmus J. Chest case of the day. Williams-Campbell syndrome. AJR Am J Roentgenol. 1995;165:190–1.
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6Marom EM, Goodman PC, McAdams HP. Diffuse abnormalities of the trachea and main bronchi. AJR Am J Roentgenol. 2001;176:713–7.
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7Burguete SR, Levine SM, Restrepo MI, et al. Lung transplantation for Williams-Campbell syndrome with a probable familial association. Respir Care. 2012;57:1505–8.
Publication Dates
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Publication in this collection
Mar-Apr 2014