Primary ciliary dyskinesia presenting with spontaneous pneumothorax: Case report and review of the literature

BACKGROUND: Primary ciliary dyskinesia (PCD) is an autosomal recessive heterogeneous group of conditions with variable clinical findings. CASE PRESENTATION: A 36-year-old nonsmoking Chinese man present to the emergency department of our hospital with acute-onset breathlessness and sudden-onset left-sided chest pain. The patient had 6 years primary infertility and suffered from recurrent episodes of respiratory tract infections since childhood. Chest X-ray was performed, which showed a left-sided pneumothorax with lung collapse. His conditions improved in clinical symptoms after 3 days of closed thoracic drainage. Radiographic findings after lung recruitment revealed bronchiectasis and bronchiolitis but no situs inversus. Paranasal sinus computed tomography (CT) showed maxillary sinusitis and ethmoid sinusitis. Pulmonary function tests demonstrated severe obstructive ventilation functional impairment. Bronchial mucosal cilia showed the absence of both outer and inner dynein arms of the microtubules (ODA and IDA). A culture of bronchoalveolar lavage fluid was positive for Pseudomonas aeruginosa. His clinical symptoms and CT images showed improvement after 1 month of treatment. A literature review revealed that few patients are diagnosed with PCD complicated with spontaneous pneumothorax. Within one year of follow-up, the patient showed good responses to local ICS+ LA beta(2) agonist combined with oral carbocistein. CONCLUSIONS: Pneumothorax might be one of the complications of the PCD. Combination therapy including ICS+ LA beta(2) agonist and carbocistein could be a potential therapy to reduce the frequency of acute exacerbations and delay progression of PCD.