Williams–Campbell syndrome: an unusual presentation in an adult patient

Abstract

Objective: Williams-Campbell syndrome (WCS) is a rare congenital disorder, which leads to bronchiectasis affecting fourth to sixth order of bronchial divisions. Symptoms include cough, sputum, wheeze and recurrent pulmonary infections, classically seen in the pediatric age group with selective bronchiectasis of the mid-order bronchioles. The literature describing diagnosis of Williams-Campbell syndrome in adult population is very sparse. Methods: This report presents a 62-year-old female with cough, fever, dyspnea and generalized body ache. She has had multiple admissions to the hospital since her childhood due to recurrent lower respiratory tract infections. Imaging findings demonstrated multiple cystic thin walled airways, compatible with bronchiectatic changes in the upper, middle and lower lobes bilaterally, bronchial wall thickening with air-fluid levels prominent in the fifth and sixth generation bronchial divisions, with normal caliber trachea and central bronchi. These radiologic findings are consistent with diagnosis of Williams-Campbell syndrome, which was diagnosed after ruling out the other common causes of bronchiectasis. Conclusion: Williams-Campbell syndrome is a rare congenital cystic lung disease, the diagnosis of which is made by exclusion of common causes of bronchiectasis such as cystic fibrosis, allergic bronchopulmonary aspergillosis, tuberculosis, dyskinetic cilia syndrome and alpha-1 antitrypsin deficiency. Whenever the clinical picture is consistent with bronchiectasis, especially involving the mid-order bronchioles and recurrent pulmonary infections, it is wise to include WCS in the list of differential diagnoses, even in the adult population.

Out of the box diagnosis in a child treated as childhood interstitial lung disease- William-Campbell syndrome

“…A close differential to WCS is Munier-Kuhn syndrome. This however is associated with tracheomegaly[ 6 ] which was not observed in our child.…”

Something is missing in the bronchus—Williams-Campbell syndrome

“…WCS is a rare congenital disorder characterized by the absence of cartilage in subsegmental bronchi, leading to bronchiectasis. 1 , 2 The pathophysiology of WCS involves airway collapse caused by deficiency of cartilage, resulting in chronic respiratory symptoms such as dyspnea and recurrent pulmonary infections. 1 Diagnosis is typically based on clinical manifestations and characteristic radiological findings on chest HRCT scans, as well as on exclusion of other causes of bronchiectasis.…”

“…Treatments such as noninvasive positive pressure ventilation have shown promise in managing respiratory failure, and lung transplantation may be considered in severe cases. 1 , 2 …”