Imaging description

Dysmotile cilia syndrome or primary ciliary dyskinesia (PCD) leads to abnormalities in mucociliary clearance that can result in pulmonary and sinus disease. There can also be an association with abnormalities of thoracoabdominal asymmetry which can lead to heterotaxy or situs inversus. When the triad of situs inversus, bronchiectasis, and sinusitis is present, the syndrome has been named Kartagener's triad (Figure 7.1). CT imaging of PCD shows bronchiectasis with a right middle lobe and lower lobe predominance. There is typically bronchial wall thickening and mucus plugging present as well [1–3]. The bronchiectatic findings are relatively nonspecific, however, when situs inversus is also present the diagnosis of PCD and Kartagener's syndrome can be made (Figure 7.1).

Importance

PCD is a heterogeneous autosomal recessive trait. Therefore, recognition of this abnormality should prompt genetic counseling for the individual and their family. With heterotaxy (situs ambiguus), there are associated cardiac, splenic, hepatic, and vascular abnormalities which should be sought in patients with PCD [1, 3] (Figure 7.2).