Primary Ciliary Dyskinesia



Primary Ciliary Dyskinesia


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





Key Facts


Terminology



  • Primary ciliary dyskinesia: Genetic disorder of ciliary structure resulting in impaired mucociliary clearance


  • Kartagener syndrome: Situs inversus, sinusitis, bronchiectasis


Imaging Findings



  • CT & HRCT



    • Bronchiectasis, bronchial wall thickening


    • Centrilobular nodules, tree-in-bud opacities


    • Mucus plugs, bronchial air-fluid levels


    • Peribronchial airspace disease


  • Radiography



    • Hyperinflation


    • Bronchial wall thickening, bronchiectasis


    • Atelectasis, consolidation


  • Situs inversus or dextrocardia (50%)


Top Differential Diagnoses



  • Cystic Fibrosis


  • Allergic Bronchopulmonary Aspergillosis (ABPA)


  • Postinfectious Bronchiectasis


  • Immune Deficiency Disorders


  • Young Syndrome


Pathology



  • Abnormal ciliary ultrastructure &/or function


Clinical Issues



  • M:F = 1:1


  • Typical presentation in early childhood, but many patients are symptomatic since birth


  • Recurrent rhinosinusitis, otitis, and pulmonary infection; male infertility


  • Good prognosis with aggressive prophylaxis and treatment







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.


TERMINOLOGY


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


Definitions



  • 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


IMAGING FINDINGS


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

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

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