An adult case of Williams-Campbell syndrome associated with pulmonary hypertension and a severe decrease in ventilatory response

Williams-Campbell syndrome is a unique form of bronchiectasis caused by a congenital defect in bronchial cartilage, and is rare in Japan. A 34-year-old man was admitted to our hospital with a fever, and a productive cough. Arterial blood gas analysis revealed severe type II-respiratory failure. Many thin-walled cystic shadows (5-60 mm in diameter) were present in the entire lung field. Pulmonary function tests revealed obstructive impairment. Bronchograms demonstrated cystic bronchiectasis, with ballooning on inspiration and collapse on expiration, characteristic of Williams-Campbell syndrome. Despite severe hypoxia, he did not suffer from dyspnea. We examined ventilatory response to hypercapnea (HCVR) and hypoxia (HVR), and both HCVR and HVR were abnormal. In addition, the mean pulmonary artery pressure was 26 mmHg, indicating pulmonary hypertension.