Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings

Abstract

Objectives: Among patients with non-cystic fibrosis bronchiectasis, 1-18% have an underlying diagnosis of primary ciliary dyskinesia (PCD) and it is suspected that there is under-recognition of this disease. Our intention was to evaluate the specific features of PCD seen on computed tomography (CT) in the cohort of bronchiectasis in order to facilitate the diagnosis.

Materials and methods: One hundred and twenty-one CTs performed in patients with bronchiectasis were scored for the involvement, type, and lobar distribution of bronchiectasis, bronchial dilatation, and bronchial wall thickening. Later, associated findings such as mucus plugging, tree in bud, consolidations, ground glass opacities, interlobular thickening, intralobular lines, situs inversus, emphysema, mosaic attenuation, and atelectasis were registered. Patients with PCD (n = 46) were compared to patients with other underlying diseases (n = 75).

Results: In patients with PCD, the extent and severity of the bronchiectasis and bronchial wall thickness were significantly lower in the upper lung lobes (p<0.001-p = 0.011). The lobar distribution differed significantly with a predominance in the middle and lower lobes in patients with PCD (<0.001). Significantly more common in patients with PCD were mucous plugging (p = 0.001), tree in bud (p <0.001), atelectasis (p = 0.009), and a history of resection of a middle or lower lobe (p = 0.047). Less common were emphysematous (p = 0.003) and fibrotic (p<0.001) changes. A situs inversus (Kartagener's Syndrome) was only seen in patients with PCD (17%, p <0.001).

Conclusion: Typical imaging features in PCD include a predominance of bronchiectasis in the middle and lower lobes, severe tree in bud pattern, mucous plugging, and atelectasis. These findings may help practitioners to identify patients with bronchiectasis in whom further work-up for PCD is called for.

Fig 1. CT in patients with PCD.

CT of two patients with definite PCD. Patient 1 (a-c) is a 34 year old female patient with PCD. CT shows cystic bronchiectasis especially in the lower lobes, severe mucous-plugging and tree in bud pattern. Patient 2 (d-f) is a 33 year old female patient. CT shows varicose bronchiectasis solely in the middle lobe, mucous-plugging and associated tree in bud pattern in the right lower lobe.

Fig 2. CT in patients with other underlying diseases.

CT of three patients with bronchiectasis due to other underlying diseases. Patient 1 is a 74 year old male patient with COPD (a, d). Bronchiectasis are of cylindrical configuration and predominant in the lower lobes, collateral findings are the emphysematous changes. Patient 2 is a 20 year old woman with Swyer James Syndrome (b, e). There are severe bronchiectasis especially in the left lower lobe; the corresponding lung lobes are hyperinflated and the accompanying vessels are thin. Patient 3 (c, f) is a 53 year old female patient with allergic bronchopulmonary aspergillosis. There are focal varicose bronchiectasis in the right lower lobe with severe mucoid impactions.