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

Objective & Hypothesis: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.

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Key Findings & Data:An 7-year-old girl with Hurler syndrome is described in this article, with special emphasis on the oral, dental and radiographic findings.

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Conclusion & Impact:Key Mucopolysaccharidosis type I, oral finding, dentistywords: Hurler syndrome

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Hurler sendromu · Mukopolisakkaridoz tip I · oral bulgu

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 syndromeHurler 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

Özet

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 genetikbozuklukların 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 Hurler syndrome Mucopolysaccharidosis type I oral finding dentisty

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Cite This Article

ARSLANOĞLU, Z., ALTAN, A., ONAT, H., KILIÇ, S., DAMLAR, İ. (2015). Oral Findings Of Hurler’s Syndrome (Mucopolysaccharıdosıs-I): Case Report. Interdisciplinary Medical Journal, Cilt: 4 - Sayı: 15, 39–42. https://ajindex.com/articles/887831

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