Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia

Melissa L. Rosado-de-Christenson, MD, FACR

Axial CECT of a patient with primary ciliary dyskinesia, Kartagener syndrome, and bronchiolitis shows profuse bilateral centrilobular nodules image. Note the right-sided descending aorta image.

Axial CECT of a patient with Kartagener syndrome shows dextrocardia and severe basilar varicose and cystic bronchiectasis with intrinsic air-fluid levels image, as well as diffuse bronchial wall thickening.


Abbreviations and Synonyms

  • Primary ciliary dyskinesia syndrome (PCD)

    • Includes all genetic disorders that cause ciliary defects and impaired mucociliary clearance

  • Synonyms

    • Dyskinetic cilia syndrome, immotile cilia syndrome

    • Note ciliary motion is usually present but abnormal


  • Primary ciliary dyskinesia syndrome

    • Abnormal ciliary ultrastructure with resultant mucociliary dysfunction and sinopulmonary disease

    • Abnormalities of situs in 50% of cases (including situs inversus and situs ambiguous)

  • Kartagener syndrome: 50% of PCD

    • Triad of situs inversus, sinusitis or nasal polyposis, and bronchiectasis

    • Is subset of PCD

    • Kartagener-Afzelius syndrome: Kartagener described sinusitis, bronchiectasis, and situs inversus; Afzelius described associated infertility


General Features

  • Best diagnostic clue: Triad of abnormal situs, bronchiectasis, and sinusitis

  • Patient position/location: Bronchiectasis with predilection for middle and lower lobes

  • Size: Bronchial dilatation ranges from mild to severe

  • Morphology: Bronchial dilatation, bronchial wall thickening, and surrounding airspace disease

CT Findings

  • Bronchial wall thickening

  • Bronchiectasis with predilection for lingula, middle and lower lobes

    • Variable severity: Cylindrical, varicose, and cystic

    • Signet-ring sign; bronchial diameter > adjacent pulmonary artery

      • CT section perpendicular to bronchial long axis

      • “Ring” is dilated bronchus

      • “Stone” is adjacent pulmonary artery

  • Mucus plugs within dilated airways

  • Centrilobular nodules and tree-in-bud opacities

  • Peribronchial airspace disease

    • Ground-glass opacity

    • Consolidation

  • Mosaic attenuation, air-trapping on expiratory CT

  • Atelectasis, often segmental

  • Findings of prior pulmonary resection

  • Associated conditions

    • Abnormalities of situs

      • Situs inversus

      • Situs ambiguous

    • Congenital heart disease

    • Sinusitis

Radiographic Findings

Sep 20, 2016 | Posted by in RESPIRATORY IMAGING | Comments Off on Primary Ciliary Dyskinesia

Full access? Get Clinical Tree

Get Clinical Tree app for offline access