Keutel Syndrome: A Case Report With Aortic Calcification

Abstract

Keutel Syndrome is a rare autosomal recessive syndrome. Laryngotracheobronchial calcification is a rare finding in young children and can occur in Keutel syndrome. Here we report 6 years old female patient with laryngotracheobronchial and aortic calcification and also review and discuss the clinical features of the syndrome. Concentric calcification of hepatic, renal, coronary and cerebral arteries were mentioned in Keutel Syndrome but to the best of our knowledge no previous aortic calcification was reported.

Keywords

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Keutel Sendromu: Aort Kalsifikasyonu Olan Bir Vaka Sunumu

Öz

Keutel sendromu nadir görülen, otozomal resesif bir hastalıktır. Küçük çocuklarda nadir görülen laringotrakeobronşiyal kalsifikasyon nedenlerinden biridir. Bu vakada laringotrakeobronşiyal ve aort kalsifikasyonu olan 6 yaşında kız hastayı sunmayı ve beraberinde Keutel sendromunun klinik bulgularını gözden geçirmeyi amaçladık. Bilgilerimize göre literatürde Keutel sendromlu hastalarda hepatik, renal, koroner ve serebral arterlerde kalsifikasyonlar rapor edilmiştir ancak aort kalsifikasyonu daha önce rapor edilmemiştir.

Anahtar Kelimeler

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Kaynakça

1. 1. Miller SF. Brachytelephalangy with sparing of the fifth distal phalanx: a feature highly suggestive of Keutel syndrome. Pediatr Radiol 2003; 33: 186-9.
2. 2. Khosroshahi HE, Uluoglu O, Olguntürk R, Basaklar C. Keutel syndrome: a report of four cases. Eur J Pediatr 1989; 149: 188- 91.
3. 3. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A Novel MGP Mutation in a Consanguineous Family: Review of the Clinical and Molecular Characteristics of Keutel Syndrome. Am J Med Genet A 2005; 135: 36-40.
4. 4. Meier M, Weng LP, Alexandrakis E, Rüschoff J, Goeckenjan G. Tracheobronchial stenosis in Keutel syndrome. Eur Respir J 2001; 17: 566-9.
5. 5. Fukuya T, Mihara F, Kudo S, et al. Tracheobronchial calcification in members of a fixed population sample. Acta Radiol 1989; 30: 277–80.
6. 6. Hatley W, Samuel E, Evison G. The pattern of ossification in the laryngeal cartilages: a radiological study. Br J Radiol 1965; 38: 585-91.
7. 7. Hoeffel JC, Bretagne MC, Thollot F. Calcification of the laryngeal, tracheal, and bronchial cartilages in children. Am J Dis Child 1988; 142: 1024–6.
8. 8. Andersen PE, Justesen P. Chondrodysplasia punctata: report of two cases. Skeletal Radiol 1987; 16: 223–6.

9. 9. Joshi A, Berdon WE, Rozal-Shapiro CR, Barst RJ. CT detection of tracheobronchial calcification in an 18-year-old on maintenance warfarin sodium therapy: cause and effect? AJR Am J Roentgenol 2000; 175: 921–2.
10. 10. Ceyhan M, Nural MS, Elmali M, Bayrak IK. Idiopathic isolated laryngotracheobronchial cartilage calcification in a child. Clin Imaging 2008; 32: 51-3.
11. 11. Schinke T, Karsenty G. Vascular calcification--a passive process in need of inhibitors. Nephrol Dial Transplant 2000; 15: 1272-4.