Bronchiolitis Obliterans and Primary Ciliary Dyskinesia: What Is the Link?

Bronchiolitis obliterans (BO) is a rare form of chronic obstructive lung disease characterized by obliteration of the small airways caused by inflammation and fibrosis. In children, BO most commonly appears following a severe lower respiratory tract infection. This phenomenon has been described as post-infectious BO (PIBO). PIBO presents with dyspnea, tachypnea, and persistent hypoxemia, as well as characteristic radiographic findings on high-resolution CT (HRCT) of the lungs. A few genetic variants have been postulated to have a role in the development of BO in patients with primary ciliary dyskinesia (PCD), but there is limited evidence regarding this, and etiologies are uncertain. PCD is a genetically heterogeneous autosomal recessive disorder characterized by ciliary dysfunction that causes impaired mucociliary clearance, leading to bronchiectasis and recurrent lower respiratory tract infections due to several pathogenic organisms including . The link between rare PCD genetic variants and BO remains undetermined. We report the first case in Puerto Rico with Pseudomonal PIBO as the initial presentation of PCD; the patient was a four-year-old male. We also engage in a comparison of our case with previously reported cases of PIBO in PCD patients.