The Mounier-Kuhn syndrome: three cases report and literature review_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

ZHANG Yi ,  YANG Xiaodong , CHEN Xuping , ZHOU Zhenxing , CHENG Xiaoliang

Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University Sichuan, Chengdu, 610041, P.R.China;

Corresponding?author：

YANG Xiaodong, Email: yang-xiaodong@163.com

Keywords：

Mounier-Kuhn syndrome; Etiology; Diagnosis; Literature review

DOI：

10.7507/1671-6205.201611013

Video：

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Objective To summarize the etiology and clinical features of Mounier-Kuhn syndrome (MKS) so as to enhance the acknowledgement of MKS. Methods Three cases of MKS were reported and the keywords with " Tracheobronchomegaly”, " Mounier-Kuhn syndrome” were analyzed through the mode of literature retrieval in CNKI, VIP and Pubmed databases. Results There were 214 cases around the world including 14 cases of MKS in China. With unknown etiology and non-specific clinical feature, MKS is characteristic with congenital absence of tracheal or bronchial elastic tissue. MKS is diagnosed with remarkably dilated trachea and bronchus through chest CT or bronchofibroscope, accompanied with genetic defects. The ratio of men to women is 8.5 to 1. There is no radical cure. Symptomatic treatment and surgical treatment when necessary could be available. Conclusions MKS is a rare progressive hereditary disease, irrelevant to smoking and sharing a similar cause with generalized elastolysis, which need pay much attention to the physical examination of skin or elastic tissue. The diagnosis of MKS should be based on not merely airway diameter but also the overall clinical, pathologic, and radiologic profile.

Citation： ZHANG Yi, YANG Xiaodong, CHEN Xuping, ZHOU Zhenxing, CHENG Xiaoliang. The Mounier-Kuhn syndrome: three cases report and literature review. Chinese Journal of Respiratory and Critical Care Medicine, 2017, 16(3): 260-264. doi: 10.7507/1671-6205.201611013 Copy

1.	Czyhlarz ER. Ueber ein pulsiondivertikel der trachea mit bemerkungen uber das verhalten der elastichen fasern an normalen tracheen und bronchein. Zentralbl Allg Pathol, 1897, 18: 721-728.
2.	Mounier-Kuhn P. Dilatation de la trachee: constatations radiographiques et bronchoscopiques. Lyon Med, 1932, 150(106): 9.
3.	Katz I, Levine M, Herman P. Tracheobronchiomegaly. The Mounier-Kuhn syndrome. Am J Roentgenol Radium Ther Nucl Med, 1962, 88: 1084-1094.
4.	Krustins E, Kravale Z, Buls A. Mounier-Kuhn syndrome or congenital tracheobronchomegaly: a literature review. Respir Med, 2013, 107(12): 1822-1828.
5.	Payandeh J, McGillivray B, McCauley G, et al. A clinical classification scheme for tracheobronchomegaly (Mounier-Kuhn syndrome）. Lung, 2015, 193(5): 815-822.
6.	Johnston RF, Green RA. Tracheobronchiomegaly. report of five cases and demonstration of familial occurrence. Am Rev Respir Dis, 1965, 91: 35-50.
7.	龐磊, 崔有斌, 連鑫, 等. 氣管、支氣管巨大癥 1 例報告. 中國實用醫藥, 2007, 2(1): 14-15.
8.	Mitterbauer A, Hoetzenecker K, Birner P, et al. Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease. Clin Respir J, 2015, 9(3): 375-379.
9.	Bateson EM, Woo-Ming M. Tracheobronchomegaly. Clin Radiol, 1973, 24(3): 354-358.
10.	Hunter TB, Kuhns LR, Roloff MA, et al. Tracheobronchiomegaly in an 18 month old child. Am J Roentgenol Radium Ther Nucl Med, 1975, 123(4): 687-690.
11.	Geppert EF. Recurrent pneumonia. Chest, 1990, 98(3): 739-745.
12.	Krustins E. Mounier-Kuhn syndrome: a systematic analysis of 128 cases published within last 25 years. Clin Respir J, 2014, 10(1): 3-10.
13.	Scheinfeld MH, Maniatis T, Gurell D. COPD?. Am J Med, 2006, 119(10): 839-842.
14.	Randak CO, Weinberger M. A child with progressive multiple tracheal diverticulae: a variation of the Mounier-Kuhn syndrome. Pediatr Pulmonol, 2013, 48(8): 841-843.
15.	Ghanei M, Peyman M, Aslani J, et al. Mounier-Kuhn syndrome: a rare cause of severe bronchial dilatation with normal pulmonary function test: a case report. Respir Med, 2007, 101(8): 1836-1839.
16.	Sane AC, Effmann EL, Brown SD. Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. Chest, 1992, 102(2): 618-619.
17.	Ayres JG, Pope FM, Reidy JF, et al. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax, 1985, 40(4): 300-305.
18.	Sailer S, Osona B, Pena-Zarza JA, et al. Coincidence of tracheobronchomegaly (Mounier-Kuhn syndrome) and juvenile idiopathic arthritis. Klin Padiatr, 2015, 227(5): 290-292.
19.	Benesch M, Eber E, Pfleger A, et al. Recurrent lower respiratory tract infections in a 14-year-old boy with tracheobronchomegaly (Mounier-Kuhn syndrome). Pediatr Pulmonol, 2000, 29(6): 476-479.
20.	Jain P, Dave M, Singh DP, et al. Mounier-Kuhn syndrome. Indian J Chest Dis Allied Sci, 2002, 44(3): 195-198.
21.	Yoshitomi A, Kuwata H, Suzuki T, et al. A case of tracheobronchomegaly. Nihon Kokyuki Gakkai Zasshi, 2000, 38(7): 571-574.
22.	Noori F, Abduljawad S, Suffin DM, et al. Mounier-Kuhn syndrome: a case report. Lung, 2010, 188(4): 353-354.
23.	Menon B, Aggarwal B, Iqbal A. Mounier-Kuhn syndrome: report of 8 cases of tracheobronchomegaly with associated complications. South Med J, 2008, 101(1): 83-87.
24.	Ker JA, Prinsloo H. Tracheobronchomegaly associated with recurrent pneumonia. Trop Doct, 2000, 30(4): 242-243.
25.	Shin MS, Jackson RM, Ho KJ. Tracheobronchomegaly (Mounier-Kuhn syndrome): CT diagnosis. Am J Roentgenol, 1988, 150(4): 777-779.
26.	Himalstein MR, Gallagher JC. Tracheobronchiomegaly. Ann Otol Rhinol Laryngol, 1973, 82(2): 223-227.
27.	Fortuna FP, Irion K, Wink C, et al. Mounier-Kuhn syndrome. J Bras Pneumol, 2006, 32(2): 180-183.
28.	Sundaram P, Joshi JM. Tracheobronchomegaly associated tracheomalacia: analysis by sleep study. Indian J Chest Dis Allied Sci, 2004, 46(1): 47-49.
29.	Odell DD, Shah A, Gangadharan SP, et al. Airway stenting and tracheobronchoplasty improve respiratory symptoms in Mounier-Kuhn syndrome. Chest, 2011, 140(4): 867-873.
30.	Hu Q, Reymond JL, Pinel N, et al. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol, 2006, 126(2): 283-290.
31.	Mitra S, Agarwal AA, Das JK, et al. Cutis laxa: A report of two interesting cases. Indian J Dermatol, 2013, 58(4): 328.
32.	Larangeira de Almeida H Jr., Passos da Rocha M, Neugebauer S, et al. Acquired cephalic cutis laxa. Dermatol Online J, 2006, 13(3): 31.
33.	Aaby GV, Blake HA. Tracheobronchiomegaly. Ann Thorac Surg, 1966, 2(1): 64-70.
34.	Kuwal A, Dutt N, Chauhan N, et al. An atypical case of Mounier-Kuhn Syndrome: time to change the diagnostic approach?. J Bronchology Interv Pulmonol, 2017, 24(1): 84-87.
35.	Gon?alves JR, Pereira MC, De Cerqueira EFP, et al. Severe obstructive disease: Similarities and differences between smoker and non-smoker patients with COPD and/or bronchiectasis. Rev Port Pneumol, 2013, 19(1): 13-18.
36.	Martínez-García Má, Soler-Catalu?a JJ, Sanz YD, et al. Factors associated with bronchiectasis in patients with COPD. Chest, 2011, 140(5): 1130-1137.

1. Czyhlarz ER. Ueber ein pulsiondivertikel der trachea mit bemerkungen uber das verhalten der elastichen fasern an normalen tracheen und bronchein. Zentralbl Allg Pathol, 1897, 18: 721-728.
2. Mounier-Kuhn P. Dilatation de la trachee: constatations radiographiques et bronchoscopiques. Lyon Med, 1932, 150(106): 9.
3. Katz I, Levine M, Herman P. Tracheobronchiomegaly. The Mounier-Kuhn syndrome. Am J Roentgenol Radium Ther Nucl Med, 1962, 88: 1084-1094.
4. Krustins E, Kravale Z, Buls A. Mounier-Kuhn syndrome or congenital tracheobronchomegaly: a literature review. Respir Med, 2013, 107(12): 1822-1828.
5. Payandeh J, McGillivray B, McCauley G, et al. A clinical classification scheme for tracheobronchomegaly (Mounier-Kuhn syndrome）. Lung, 2015, 193(5): 815-822.
6. Johnston RF, Green RA. Tracheobronchiomegaly. report of five cases and demonstration of familial occurrence. Am Rev Respir Dis, 1965, 91: 35-50.
7. 龐磊, 崔有斌, 連鑫, 等. 氣管、支氣管巨大癥 1 例報告. 中國實用醫藥, 2007, 2(1): 14-15.
8. Mitterbauer A, Hoetzenecker K, Birner P, et al. Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease. Clin Respir J, 2015, 9(3): 375-379.
9. Bateson EM, Woo-Ming M. Tracheobronchomegaly. Clin Radiol, 1973, 24(3): 354-358.
10. Hunter TB, Kuhns LR, Roloff MA, et al. Tracheobronchiomegaly in an 18 month old child. Am J Roentgenol Radium Ther Nucl Med, 1975, 123(4): 687-690.
11. Geppert EF. Recurrent pneumonia. Chest, 1990, 98(3): 739-745.
12. Krustins E. Mounier-Kuhn syndrome: a systematic analysis of 128 cases published within last 25 years. Clin Respir J, 2014, 10(1): 3-10.
13. Scheinfeld MH, Maniatis T, Gurell D. COPD?. Am J Med, 2006, 119(10): 839-842.
14. Randak CO, Weinberger M. A child with progressive multiple tracheal diverticulae: a variation of the Mounier-Kuhn syndrome. Pediatr Pulmonol, 2013, 48(8): 841-843.
15. Ghanei M, Peyman M, Aslani J, et al. Mounier-Kuhn syndrome: a rare cause of severe bronchial dilatation with normal pulmonary function test: a case report. Respir Med, 2007, 101(8): 1836-1839.
16. Sane AC, Effmann EL, Brown SD. Tracheobronchiomegaly. The Mounier-Kuhn syndrome in a patient with the Kenny-Caffey syndrome. Chest, 1992, 102(2): 618-619.
17. Ayres JG, Pope FM, Reidy JF, et al. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax, 1985, 40(4): 300-305.
18. Sailer S, Osona B, Pena-Zarza JA, et al. Coincidence of tracheobronchomegaly (Mounier-Kuhn syndrome) and juvenile idiopathic arthritis. Klin Padiatr, 2015, 227(5): 290-292.
19. Benesch M, Eber E, Pfleger A, et al. Recurrent lower respiratory tract infections in a 14-year-old boy with tracheobronchomegaly (Mounier-Kuhn syndrome). Pediatr Pulmonol, 2000, 29(6): 476-479.
20. Jain P, Dave M, Singh DP, et al. Mounier-Kuhn syndrome. Indian J Chest Dis Allied Sci, 2002, 44(3): 195-198.
21. Yoshitomi A, Kuwata H, Suzuki T, et al. A case of tracheobronchomegaly. Nihon Kokyuki Gakkai Zasshi, 2000, 38(7): 571-574.
22. Noori F, Abduljawad S, Suffin DM, et al. Mounier-Kuhn syndrome: a case report. Lung, 2010, 188(4): 353-354.
23. Menon B, Aggarwal B, Iqbal A. Mounier-Kuhn syndrome: report of 8 cases of tracheobronchomegaly with associated complications. South Med J, 2008, 101(1): 83-87.
24. Ker JA, Prinsloo H. Tracheobronchomegaly associated with recurrent pneumonia. Trop Doct, 2000, 30(4): 242-243.
25. Shin MS, Jackson RM, Ho KJ. Tracheobronchomegaly (Mounier-Kuhn syndrome): CT diagnosis. Am J Roentgenol, 1988, 150(4): 777-779.
26. Himalstein MR, Gallagher JC. Tracheobronchiomegaly. Ann Otol Rhinol Laryngol, 1973, 82(2): 223-227.
27. Fortuna FP, Irion K, Wink C, et al. Mounier-Kuhn syndrome. J Bras Pneumol, 2006, 32(2): 180-183.
28. Sundaram P, Joshi JM. Tracheobronchomegaly associated tracheomalacia: analysis by sleep study. Indian J Chest Dis Allied Sci, 2004, 46(1): 47-49.
29. Odell DD, Shah A, Gangadharan SP, et al. Airway stenting and tracheobronchoplasty improve respiratory symptoms in Mounier-Kuhn syndrome. Chest, 2011, 140(4): 867-873.
30. Hu Q, Reymond JL, Pinel N, et al. Inflammatory destruction of elastic fibers in acquired cutis laxa is associated with missense alleles in the elastin and fibulin-5 genes. J Invest Dermatol, 2006, 126(2): 283-290.
31. Mitra S, Agarwal AA, Das JK, et al. Cutis laxa: A report of two interesting cases. Indian J Dermatol, 2013, 58(4): 328.
32. Larangeira de Almeida H Jr., Passos da Rocha M, Neugebauer S, et al. Acquired cephalic cutis laxa. Dermatol Online J, 2006, 13(3): 31.
33. Aaby GV, Blake HA. Tracheobronchiomegaly. Ann Thorac Surg, 1966, 2(1): 64-70.
34. Kuwal A, Dutt N, Chauhan N, et al. An atypical case of Mounier-Kuhn Syndrome: time to change the diagnostic approach?. J Bronchology Interv Pulmonol, 2017, 24(1): 84-87.
35. Gon?alves JR, Pereira MC, De Cerqueira EFP, et al. Severe obstructive disease: Similarities and differences between smoker and non-smoker patients with COPD and/or bronchiectasis. Rev Port Pneumol, 2013, 19(1): 13-18.
36. Martínez-García Má, Soler-Catalu?a JJ, Sanz YD, et al. Factors associated with bronchiectasis in patients with COPD. Chest, 2011, 140(5): 1130-1137.

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