link
Bookmarks
Primary Ciliary Dyskinesia
Melissa L. Rosado-de-Christenson, MD, FACR
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.Log inSubscribe
0
8
2
3

KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Clinical Issues

          • Diagnostic Checklist

            TERMINOLOGY

            • Synonyms

              • Dyskinetic cilia syndrome
              • Immotile cilia syndrome: Misnomer as ciliary motion is present but abnormal
            • Definitions

              • Primary ciliary dyskinesia (PCD)
                • Genetic disorder causing ciliary defects and impaired mucociliary clearance
                • Mucociliary dysfunction and chronic otosinopulmonary disease
                • Abnormalities of situs in 50% of cases
              • Kartagener syndrome
                • Triad of situs inversus, sinusitis &/or nasal polyposis, and bronchiectasis
                • 50% of patients with PCD
                • Kartagener-Afzelius syndrome
                  • Kartagener described sinusitis, bronchiectasis, and situs inversus
                  • Afzelius described associated infertility; structural abnormalities of motile cilia and sperm

            IMAGING

            • General Features

              • Radiographic Findings

                • CT Findings

                  • Imaging Recommendations

                    DIFFERENTIAL DIAGNOSIS

                      PATHOLOGY

                      • General Features

                        • Gross Pathologic & Surgical Features

                          • Microscopic Features

                            CLINICAL ISSUES

                            • Presentation

                              • Demographics

                                • Diagnosis

                                  • Screening

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. Fitzgerald DA et al: When to suspect primary ciliary dyskinesia in children. Paediatr Respir Rev. 18:3-7, 2016
                                            2. Harrison MJ et al: Congenital heart disease and primary ciliary dyskinesia. Paediatr Respir Rev. 18:25-32, 2016
                                            3. Knowles MR et al: Primary ciliary dyskinesia. Clin Chest Med. 37(3):449-61, 2016
                                            4. Lucas JS et al: Diagnostic methods in primary ciliary dyskinesia. Paediatr Respir Rev. 18:8-17, 2016
                                            5. Takeuchi K et al: Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx. 43(3):229-36, 2016
                                            6. Javidan-Nejad C et al: Bronchiectasis. Radiol Clin North Am. 47(2):289-306, 2009
                                            7. Jain K et al: Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol. 62(10):986-93, 2007
                                            8. Kennedy MP et al: High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 188(5):1232-8, 2007
                                            9. Kennedy MP et al: Primary ciliary dyskinesia and upper airway diseases. Curr Allergy Asthma Rep. 6(6):513-7, 2006
                                            10. Berdon WE et al: Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius. Pediatr Radiol. 34(1):38-42, 2004
                                            11. Biggart E et al: Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Eur Respir J. 17(3):444-8, 2001
                                            12. Cowan MJ et al: Disorders of ciliary motility. Am J Med Sci. 321(1):3-10, 2001
                                            Related Anatomy
                                            Loading...
                                            Related Differential Diagnoses
                                            Loading...
                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Synonyms

                                                        • Dyskinetic cilia syndrome
                                                        • Immotile cilia syndrome: Misnomer as ciliary motion is present but abnormal
                                                      • Definitions

                                                        • Primary ciliary dyskinesia (PCD)
                                                          • Genetic disorder causing ciliary defects and impaired mucociliary clearance
                                                          • Mucociliary dysfunction and chronic otosinopulmonary disease
                                                          • Abnormalities of situs in 50% of cases
                                                        • Kartagener syndrome
                                                          • Triad of situs inversus, sinusitis &/or nasal polyposis, and bronchiectasis
                                                          • 50% of patients with PCD
                                                          • Kartagener-Afzelius syndrome
                                                            • Kartagener described sinusitis, bronchiectasis, and situs inversus
                                                            • Afzelius described associated infertility; structural abnormalities of motile cilia and sperm

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • CT Findings

                                                            • Imaging Recommendations

                                                              DIFFERENTIAL DIAGNOSIS

                                                                PATHOLOGY

                                                                • General Features

                                                                  • Gross Pathologic & Surgical Features

                                                                    • Microscopic Features

                                                                      CLINICAL ISSUES

                                                                      • Presentation

                                                                        • Demographics

                                                                          • Diagnosis

                                                                            • Screening

                                                                              • Natural History & Prognosis

                                                                                • Treatment

                                                                                  DIAGNOSTIC CHECKLIST

                                                                                  • Consider

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. Fitzgerald DA et al: When to suspect primary ciliary dyskinesia in children. Paediatr Respir Rev. 18:3-7, 2016
                                                                                      2. Harrison MJ et al: Congenital heart disease and primary ciliary dyskinesia. Paediatr Respir Rev. 18:25-32, 2016
                                                                                      3. Knowles MR et al: Primary ciliary dyskinesia. Clin Chest Med. 37(3):449-61, 2016
                                                                                      4. Lucas JS et al: Diagnostic methods in primary ciliary dyskinesia. Paediatr Respir Rev. 18:8-17, 2016
                                                                                      5. Takeuchi K et al: Recent advances in primary ciliary dyskinesia. Auris Nasus Larynx. 43(3):229-36, 2016
                                                                                      6. Javidan-Nejad C et al: Bronchiectasis. Radiol Clin North Am. 47(2):289-306, 2009
                                                                                      7. Jain K et al: Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol. 62(10):986-93, 2007
                                                                                      8. Kennedy MP et al: High-resolution CT of patients with primary ciliary dyskinesia. AJR Am J Roentgenol. 188(5):1232-8, 2007
                                                                                      9. Kennedy MP et al: Primary ciliary dyskinesia and upper airway diseases. Curr Allergy Asthma Rep. 6(6):513-7, 2006
                                                                                      10. Berdon WE et al: Situs inversus, bronchiectasis, and sinusitis and its relation to immotile cilia: history of the diseases and their discoverers-Manes Kartagener and Bjorn Afzelius. Pediatr Radiol. 34(1):38-42, 2004
                                                                                      11. Biggart E et al: Primary ciliary dyskinesia syndrome associated with abnormal ciliary orientation in infants. Eur Respir J. 17(3):444-8, 2001
                                                                                      12. Cowan MJ et al: Disorders of ciliary motility. Am J Med Sci. 321(1):3-10, 2001