Williams–Campbell syndrome in an adult previously treated as allergic bronchopulmonary aspergillosis: a diagnostic challenge

Abstract Introduction Williams-Campbell Syndrome (WCS) is a rare congenital syndrome of unknown origin, characterized by defective or completely absent bronchial wall cartilage which can lead to distal airway collapse, forming bronchiectasis distal to the collapsed bronchi. The existence of an ‘adult-type’ Williams-Campbell syndrome suggests that patients with less severe cartilage deficiency may remain subclinical or undiagnosed for years. Case report A 40-year-old female was admitted to the hospital due to hemoptysis. Since childhood, the patient was hospitalized multiple times because of respiratory infections and hemoptysis. According to the available historical medical documentation, the patient had previously been diagnosed with allergic bronchopulmonary aspergillosis (ABPA) based on positive Aspergillus serology, elevated total IgE and bronchoscopic findings. During the current hospitalization, however, microbiological and immunological investigations did not fulfill contemporary ISHAM diagnostic criteria for active ABPA. Dynamic inspiratory and expiratory computed tomography demonstrated characteristic expiratory collapse of the fourth- to sixth-order bronchi, strongly supporting the diagnosis of Williams–Campbell syndrome.Treatment was continued with antibiotics and pulmonary rehabilitation. Glucocorticoid therapy was interrupted without further signs of ABPA exacerbations. Discussion and conclusion Differential diagnosis between these two conditions can sometimes be difficult. Treatment of ABPA with glucocorticoids alone can contribute to worsening symptoms of WCS with more susceptibility to infections. It is necessary to keep in mind this rare condition as one of the possible differential diagnoses of bronchiectasis due to different treatment strategies.