HURLER SENDROMU’NUN (MUKOPOLİSAKKARİDOZ-I) ORAL BULGULARI: OLGU SUNUMU

Abstract

Hurler sendromu (Mukopolisakkaridoz tip I) çeşitli dokularda asit mukopolisakkaritlerin birikimiyle karakterize, genetik bir hastalıktır. Bu makalede; Hurler sendromlu 7 yaşındaki bir kız hastanın, ağız, diş ve radyolojik bulgular üzerinde durularak olgu sunumu yapıldı. Mukopolisakkaridozlar (MPS), nadir olarak görülen lizozomal enzim üretimindeki genetik
bozuklukların neden olduğu, kalıtsal metabolik hastalıklardandır (1). MPS’ler etkilenen enzime göre yedi tip (I, II, III, IV, VI, VII ve IX) olarak sınıflandırılır. Mukopolisakkaridoz I lizozomal hidrolaz alfa-L-iduronidaz enziminin eksikliğinin veya yokluğunun neden olduğu otozomal resesif bir hastalıktır (2). Bu enzim heparin sülfat, dermatan sülfat gibi glikozaminoglikanların degradasyonundan sorumludur ve enzimin eksikliği bu maddelerin farklı dokularda birikimine neden olur (3). Mukopolisakkaritlerin birikimi ilerleyen mental retardasyona ve ilk yıldan itibaren artan nörolojik gelişim eksikliğine neden olmaktadır (4). MPS-I’in şiddetli formu Hurler Sendromu (MPS-IH) olarak da bilinir ve merkezi sinir sistemi üzerine etkilerinin erken başlangıcıyla karakterizedir (5). MPS-I’in daha hafif seyreden diğer formları Hurler-Scheie, Scheie sendromları olup merkezi sinir sistemi üzerine farkedilebilir etkileri yoktur (2). 

Keywords

• Hurler sendromu
• Mukopolisakkaridoz tip I
• oral bulgu
• diş hekimliği

Oral Findings Of Hurler’s Syndrome (Mucopolysaccharıdosıs-I): Case Report

Abstract

Hurler syndrome (Mucopolysaccharidosis type I) is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. An 7-year-old girl with Hurler syndrome is described in this article, with special emphasis on the oral, dental and radiographic findings. Key Mucopolysaccharidosis type I, oral finding, dentistywords: Hurler syndrome

Hurler syndrome (Mucopolysaccharidosis type I) is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. An 7-year-old girl with Hurler syndrome is described in this article, with special emphasis on the oral, dental and radiographic findings. Key Mucopolysaccharidosis type I, oral finding, dentistywords: Hurler syndrome

Keywords

• Hurler syndrome
• Mucopolysaccharidosis type I
• oral finding
• dentisty

References

1. Noh H, Lee JI. Current and potential therapeutic strategies for mucopolysaccharidoses. J
2. Clin Pharm Ther. 2014;39(3):215-224.
3. Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long term outcomes of adaptive
4. functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with
5. hematopoietic stem cell transplantation. J Dev Behav Pediatr 2006;27:290-296.
6. Hingston EJ, Hunter ML, Hunter B, Drage N. Hurler’s syndrome: dental findings in a case
7. treated with bone marrow transplantation in infancy. Int J Paediatr Dent 2006;16:207-212.
8. Alpöz AR, Coker M, Celen E, Ersin NK, Gökçen D, van Diggelenc OP, Huijmansc JG.

9. The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): A
10. case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006 ;101(5):632-637.
11. Whitley CB. The mucopolysaccharidoses. In: Beighton P, editor. McKusick’s heritable
12. diseases of connective tissue. 5th ed. St Louis (MO): Mosby; 1993. p. 367-499.
13. Wraith JE. The first 5 years of clinical experience with laronidase enzyme replacement
14. therapy for mucopolysaccharidosis I. Expert Opin Pharmacother 2005;6:489-506.
15. Keith O, Scully C, Weidmann GM. Orofacial features of Scheie (Hurler-Scheie) syndrome
16. (alpha-L-iduronidase deficiency). Oral Surg Oral Med Oral Pathol Oral Radiol Endod
17. ; 70:70-74.
18. Stehling L. Common problems in pediatric anesthesia. 2nd edition, St Louis, Mosby Year
19. Book, 1992: 267-293.
20. Erkal H, Çıplaklıgil E, Özyurt Y, Arıkan Z. Hurler Sendromu’nda Anestezi Uygulaması:
21. Olgu Sunumu. Kartal Eğitim Ve Araştırma Hastanesi Tıp Dergisi. 2003; XIV( 2): 115-116
22. Hinek A, Wilson SE. Impaired elastogenesis in Hurler disease: dermatan sulfate
23. accumulation linked to deficiency in elastinbinding protein and elastic fiber assembly. Am
24. J Pathol 2000;156:925-938.
25. Thomas S, Tandon S. Hurler syndrome: a case report. J Clin Pediatr Dent 2000;24:335-
26. -
27. Worth HM. Hurler’s syndrome. A study of radiologic appearancesin the jaws. Oral Surg
28. Oral Med Oral Pathol Oral Radiol Endod 1966;22:21-35.
29. Gardner DG. The oral manifestations of Hurler’s syndrome. Oral Surg Oral Med Oral
30. Pathol Oral Radiol Endod 1971;32:46-57.
31. MacLeod SP, Macintyre DR. Bilateral hypoplasia of mandibular condyles in Hurler’s
32. syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1993;75:659-660.
33. Yavaşcaoğlu B, Gürpınar A, Korfalı G, Akın S: Hurler Sendromu ve Anestezi. Türk Anest
34. Rean Cem Mecmuası1996; 24: 329-330.