Williams–Campbell syndrome: a case report

Abstract

IntroductionWilliams–Campbell syndrome, also known as bronchomalacia, is a rare disorder characterized by a deficiency of cartilage in subsegmental bronchi, leading to distal airway collapse and bronchiectasis. There have been few reports about patients affected by saccular bronchiectasis, paracicatricial emphysema, and diminished cartilage. These are all characteristic of Williams–Campbell syndrome.Case presentationThis report presents a 57-year-old woman with progressive dyspnea, cough, sputum production, and fever. The clinical and laboratory examination revealed that the patient had a respiratory infection due to bronchiectasis caused by Williams–Campbell syndrome, which was undiagnosed in the patient until then.ConclusionAlthough a rare syndrome, when patients’ signs and symptoms include recurrent respiratory infections, bronchiectasis, productive cough, and dyspnea, Williams–Campbell syndrome should be included in the differential diagnosis.

Which is your diagnosis?

“…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 ( 1 , 2 ) .…”

“…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 ( 1 , 2 ) . The cartilage rings deficiency in the fourth- to sixth-order bronchi results in distal bronchiectasis, with the trachea and main bronchi remaining intact ( 3 ) .…”

“…Such a syndrome is commonly described in children with a history of recurrent pneumonias and obstructive symptoms; and is occasionally diagnosed in adult individuals ( 2 - 4 ) . There are descriptions of familial occurrence, suggesting the necessity of investigation of all the family members ( 1 , 5 ) . Clinical symptoms include cough, wheezing and recurrent pneumonias ( 1 , 5 ) .…”

“…There are descriptions of familial occurrence, suggesting the necessity of investigation of all the family members ( 1 , 5 ) . Clinical symptoms include cough, wheezing and recurrent pneumonias ( 1 , 5 ) . Respiratory function tests demonstrate an obstructive pattern and, in advanced disease may present a mixed pattern.…”

“…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 ( 1 ) .…”