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Tekrarlayan akciğer enfeksiyonunun nadir bir nedeni: Jeune sendromu

Year 2019, , 181 - 183, 28.06.2019
https://doi.org/10.19161/etd.416010

Abstract

Otozomal resesif geçişli bir hastalık olan Jeune sendromu, birçok sistem tutulumu ile giden nadir bir iskelet displazisidir. Asfiktik torasik distrofi olarak da bilinen bu hastalıkta, solunum sıkıntısına yol açan çan şeklinde dar göğüs kafesi, kısa ekstremiteli cücelik ve pelvik kemik anomalileri en tipik muayene bulgularıdır. Tekrarlayan alt solunum yolu enfeksiyonu nedeniyle kliniğimize başvuran ve Jeune sendromu tanısı koyulan 7 aylık kız çocuk, nadir görülen bir hastalık olması nedeniyle sunulmuştur.

References

  • Yiyit N, Yıldızhan A, Candaş FH, Görür R, Işıtmangil T. Yetişkin yaşa ulaşmış Jeune sendromu olgusu. Gülhane Tıp Derg 2015;57(2): 188-9
  • Karjoo M, Koop CE, Cornfield D, Holtzappla PG. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child 1973; 48(2): 143-6.
  • Wilson DJ, Weleber RG, Beals RK. Retinal dystrophy in Jeune’s syndrome. Arch Ophtalmol 1987; 105(5): 651-7.
  • Jeune M, Beraud C. Carron R. Dystrophie thoracique asphyxiante de caractère familial. Arc Fr Pediatr 1955;12(8): 886-91.
  • Williams AJ, Vawter G, Reid LM. Lung structure in asphyxiating thoracic dystrophy. Arch Pathol Lab Med 1984; 108(8): 658-61.
  • De Vries J, Yntema JL, Van Die CE, et al. Jeune syndrome:description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2010;169(1):77-88.
  • Uçar Ş, Zorlu P, Şahin G,Yıldırım M, Uşak E. Jeune sendromu (asfiktik torasik displazi): Olgu sunumu. Tüberküloz ve Toraks Dergisi 2009; 57(4): 413-6.
  • Oberklaid R, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977; 52(10): 758-65.
  • den Hollander NS, Robben SG, Hoogeboom AJ, Niermeijer MF, Wladimiroff JW. Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol 2001;18(4):378-83.
  • Sharoni E, Erez E, Chorev G, Dagan O, Vidne BA. Chest reconstruction in asphyxiating thoracic dystrophy. J Pediatr Surg 1998; 33(10): 1578-81.

A rare cause of recurrent pulmonary infection: Jeune syndrome

Year 2019, , 181 - 183, 28.06.2019
https://doi.org/10.19161/etd.416010

Abstract

Jeune syndrome, is a rare autosomal recessive skeletal dysplasia characterized by multisystem involvement. In this disease, otherwise called as “asphyxiating thoracic dystrophy”, bell-shaped narrow thorax that leads to respiratory distress, short-limbed dwarfism, and typical pelvic abnormalities are the most common clinical signs. Herein we present a 7-month-old girl who admitted to our clinic because of recurrent lower respiratory tract infection and diagnosed as Jeune syndrome and we report the case due to its rarity.

References

  • Yiyit N, Yıldızhan A, Candaş FH, Görür R, Işıtmangil T. Yetişkin yaşa ulaşmış Jeune sendromu olgusu. Gülhane Tıp Derg 2015;57(2): 188-9
  • Karjoo M, Koop CE, Cornfield D, Holtzappla PG. Pancreatic exocrine enzyme deficiency associated with asphyxiating thoracic dystrophy. Arch Dis Child 1973; 48(2): 143-6.
  • Wilson DJ, Weleber RG, Beals RK. Retinal dystrophy in Jeune’s syndrome. Arch Ophtalmol 1987; 105(5): 651-7.
  • Jeune M, Beraud C. Carron R. Dystrophie thoracique asphyxiante de caractère familial. Arc Fr Pediatr 1955;12(8): 886-91.
  • Williams AJ, Vawter G, Reid LM. Lung structure in asphyxiating thoracic dystrophy. Arch Pathol Lab Med 1984; 108(8): 658-61.
  • De Vries J, Yntema JL, Van Die CE, et al. Jeune syndrome:description of 13 cases and a proposal for follow-up protocol. Eur J Pediatr 2010;169(1):77-88.
  • Uçar Ş, Zorlu P, Şahin G,Yıldırım M, Uşak E. Jeune sendromu (asfiktik torasik displazi): Olgu sunumu. Tüberküloz ve Toraks Dergisi 2009; 57(4): 413-6.
  • Oberklaid R, Danks DM, Mayne V, Campbell P. Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients. Arch Dis Child 1977; 52(10): 758-65.
  • den Hollander NS, Robben SG, Hoogeboom AJ, Niermeijer MF, Wladimiroff JW. Early prenatal sonographic diagnosis and follow-up of Jeune syndrome. Ultrasound Obstet Gynecol 2001;18(4):378-83.
  • Sharoni E, Erez E, Chorev G, Dagan O, Vidne BA. Chest reconstruction in asphyxiating thoracic dystrophy. J Pediatr Surg 1998; 33(10): 1578-81.
There are 10 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Case Reports
Authors

Konca Çapan 0000-0001-8625-9045

Muhammed Nebi Çalışkan 0000-0003-3764-2288

Publication Date June 28, 2019
Submission Date December 7, 2017
Published in Issue Year 2019

Cite

Vancouver Çapan K, Çalışkan MN. Tekrarlayan akciğer enfeksiyonunun nadir bir nedeni: Jeune sendromu. ETD. 2019;58(2):181-3.

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