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Weekly Chest CasesArchive of Old Cases

Case No : 435 Date 2006-02-27

  • Courtesy of Hyun Ju Lee, MD. /
  • Age/Sex 15 / F
  • Chief ComplaintSputum
  • Figure 1
  • Figure 2
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  • Figure 6

Diagnosis With Brief Discussion

Diagnosis
Immotile Cilia Syndrome
Radiologic Findings
Chest radiograph and chest CT shows diffuse bronchiectasis in both lungs. Minimal bronchiolitis is also seen.

On Waters view of paranasal sinus, total haziness of maxillary, esthmoid, and frontal sinuses suggesting pansinusitis.
Brief Review
Immotile cilia syndrome is a rare disorder in which there is an ultrastructural defect in the cilia in various cells. It is inherited in autosomal recessive manner with an estimated prevalence of 1 in 16,000. It affects the ciliated epithelium of the upper respiratory tract and therefore results in ineffective clearing of mucus.

Parents of a child with primary ciliary dyskinesia generally have no history of chronic lung disease. There is a 25% chance that another child is affected by the condition.

Cilia from the lung, nose, or elsewhere have a structure that is highly conservative and, moreover, resembles that of the sperm flagellum. The central part of the sperm tail, its axoneme, thus has the same well known 9 + 2 pattern as has a cilium, although it is about 50 탆 long whereas the human cilium is only about 6 탆 in length.

The ultrastructure of the sperm tail from three infertile men with immotile but otherwise normal spermatozoa had been described in two papers in 1975; they were found to lack the so-called dynein arms, the structures responsible for generating the movements of cilia or sperm tails. The absence of dynein arms had not been described in any other organism, although flagellar (or ciliary) mutants of other types had been described from a unicellular green alga. In one of these two papers the spermatozoa of two brothers were examined and it was suggested that "the two brothers have a genetic disorder in which the synthesis of the dynein proteins, or their assembly into dynein arms, is defective".

Kartagener syndrome could therefore be regarded as a subgroup of the immotile cilia syndrome. The clinical consequences are the same and include chronic cough and expectoration of mucoid, mucopurulent sputum, bronchiectasis, chronic rhinitis and nasal polyposis, recurrent maxillary rhinitis, often agenesis of the frontal sinuses, not rarely atelectasis, and often otitis before puberty. The clinical manifestations include chronic rhinitis, sinusitis and bronchitis dating from early childhood. Treatment is symptomatic and directed against complications in the respiratory tract. Early physiotherapy is recommended.

An early diagnosis of the disease is important in order to start proper treatment of the child and to avoid other unnecessary medical examinations. If an electron microscopic examination has shown the cilia to have a normal structure, no diagnosis can be made. A functional test of the cilia is preferable. A simple method is the saccharin test in which small grains of saccharin are placed on the nasal mucosa and the time for them to be transported to the pharynx is measured. This technique is not completely reliable, however, and cannot be used for children under the age of about five years.

The most reliable test is one elaborated by Jorissen and Bertrand in which a biopsy specimen from the nasal epithelium is cultivated in a culture solution to which pronase has been added to dissociate the cells from the epithelium, as well as antibacterial drugs. After a few days the cilia are shed and after a further period of about six weeks a population of new cilia have emerged. The test records whether these fresh cilia beat with coordinated beatings which will result in a rotation of the isolated cells or cell aggregates. If there is no rotation after regrowth of the cilia the patient is diagnosed as having immotile cilia syndrome. In cases where cell aggregates from the original biopsy specimen show no rotation but the cells with regrown cilia rotate, the condition is classified as a secondary ciliary dyskinesia, perhaps caused by bacterial toxins.
References
1. Afzelius BA. Immotile cilia syndrome: past, present, and prospects for the future. Thorax. 1998;53:894-897

2. Pedersen H, Rebbe H. Absence of arms in the axoneme of immobile human spermatozoa. Biol Reprod.

1975;12:541-544

3. Afzelius BA, Eliasson R, Johnsen O, et al. Lack of dynein arms in immotile human spermatozoa. J Cell Biol.

1975;66:225-232.

4. Adams R, Churchill ED. Situs inversus, sinusitis and bronchiectasis. J Thorac Surg 1937;7:206-217.

5. Holmes LB, Blennerhasset JB, Austen KF. A reappraisal of Kartageners syndrome. Am J Med Sci.

1968;255:13-28.

6. Stanley P, McWilliam L, Greenstone M, et al. Efficacy of a saccharin test for the screening to detect abnormal

mucociliary clearance. Br J Dis Chest. 1984;78:62-65.

7. Jorissen M, Bertrand B. Ciliary dyskinesia in the nose and paranasal sinuses. Acta Otolaryngol Belge.

1997;51:353-366.
Keywords
Lung, Multiple organ, Congenital,

No. of Applicants : 59

▶ Correct Answer : 17/59,  28.8%
  • - National Taiwan University Hospital, Taiwan Kao-Lang Liu
  • - CHRA, Annecy France Bing Fabrice
  • - Yongdong Severance Hospital, Seoul, Korea Eun-Suk Cho
  • - Asan Medical Center, Seoul, Korea Hyun-Joo Kim
  • - Dong-A University Hospital, Korea Ki-Nam Lee
  • - Konkuk University Hospital, Seoul, Korea Jeong Geun Yi
  • - IRCCS St. Luca Hospital, Milano, Italy Filippo Casolo
  • - Marien Hospital, Germany Davis Chiramel
  • - Ewha Womans University MokDong Hospital, Korea Yookyung Kim
  • - Gwangmyoung Sungae Hospital, Korea Jiyong Rhee
  • - Clinic 1, Moscow, Russia Lepikhina Dasha
  • - Jinju Korea Hospital, Korea JI Hoon Park
  • - Jikei University of Medicine, Tokyo, Japan Shigeki Misumi
  • - Max Hospital, New Delhi, India Vickrant Malhotra
  • - Annecy Hospital, France Gilles Genin
  • - Ultracare , Coimbatore , India Debabrata Das
  • - KMC Manipal Nabil Sherif
▶ Correct Answer as Differential Diagnosis : 12/59,  20.3%
  • - Inje University Ilsan Paik Hospital, Korea Bae Geun Oh
  • - Pgimer, Chandigarg, India Ram Prakash Galwa
  • - Kashan Shahid Beheshti Hospital, Kashan, Iran Ebrahim Razi
  • - Apollo FirstMed Hospital, Chennai, India RG Gopinath
  • - Hangang Sacred Heart Hospital, Korea Eil Seong Lee
  • - University of Pennsylvania, USA Lisa Jones
  • - Radiologie Guiton, La Rochelle, France Denis Chabassiere
  • - Annemasse, Polyclinique de Savoie, France Gay-Depassier
  • - Homs National Hospital, Homs, Syria Rami Abou Zalaf
  • - Yonsei University Severance Hospital, Korea Yong Eun Chung
  • - Yonsei University Shinchon Severance Hospital, Korea Hye-Jeong Lee
  • - Monaldi Hospital, Naples, Italy Gaetano Rea
▶ Semi-Correct Answer : 19/59,  32.2%
  • - Shinsegye Rad Clinic, Korea Gi Beom Kim
  • - Hopital Calmette, Lille, France Toledano Manuel
  • - EPM and Fleury Medical Center, Sao Paulo, Brazil Gustavo Meirelles
  • - Ruby Hall Clinic, Pune, India John Joseph
  • - Doma Hospital, Damascus, Syria Mostafa Dakak
  • - Regional Imaging, Riverina, Australia Rashid Hashmi
  • - Seoul National University Hospital, Korea Kwang Nam Jin
  • - Korea University Hospital, Korea Seok Kyu Eom
  • - Ondokuz Mayis University, Samsun, Turkey Cetin Celenk
  • - Cabinet de Radiologie Guiton, La Rochelle, France Jean-Luc Bigot
  • - Diskapi Yildirim Beyazit Hospital, Ankara, Turkey Meric Tuzun
  • - Hopitaux HIS, Site Ixelles, Brussels, Belgium Emmanuel Agneessens
  • - Long Island Jewish Medical Center, New York, USA Pinar Karakas
  • - Chikuhou Rousai Hospital, Korea Kouei Uchida
  • - Kangnam St. Mary Hospital, Korea ChaeHun Lim
  • - Incheon Sarang Hospital, Korea Jung Hee Kim
  • - Dongguk University International Hospital,Ilsan, Korea Hee Seok Choi
  • - Samcheunpo Jeil Hospital, Korea Su Jin Kang
  • - China Medical University Hospital,Taiwan Jun-Jun Yeh
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