PO-0375 Oral And Dental Findings In Mucopolysaccharidosis Type I

• Published in: Archives of disease in childhood Vol. 99; no. Suppl 2; p. A368
• Main Authors: Boutrid, N, Rahmoune, H, Bioud, B, Rahmoune, FC
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group LTD 01.10.2014
• Subjects: Children; Dental enamel; Dentin; Dentistry; Enamel; Genetic disorders; Glycosaminoglycans; Hyperplasia; Inborn errors of metabolism; Lysosomal storage diseases; Mandible; Metabolic disorders; Mucopolysaccharidosis; Palate; Patients; Protein structure; Teeth; Tubules
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2014-307384.1022

IntroductionMucopolysaccharidosis type I is an autosomal recessive inborn error of metabolism characterised by accumulation of incompletely degraded glycosaminoglycans leading to systemic impairment.Our report presents the oro-dental and radiographic findings in 06 patients with MPS IMethods and descriptionThe examination of the Mucopolysaccharidosis type I affected children followed in our clinic reveals characteristic abnormalities such as hypoplastic peg-shaped teeth and dysplastic teeth and gingival hyperplasia.In all our patients, dental panoramic radiograph underlines these aspects.Results and discussionThe oral and dental findings of MPS I include hyperplastic gingiva, macroglossia, high-arched palate, short mandibular rami with abnormal condyles, spaced hypoplastic peg-shaped teeth with retarded eruption; and localised dentigerous cyst-like radiolucenciesGuven et al.(Jan 2008) have investigated the ultra structural and chemical properties of MPS I (Hurler) teeth. The dentin of the primary teeth was characterised by extremely narrow dentinal tubules with an irregular wave-like pattern. The enamel-dentin junction was poorly shaped, micro gaps occurred and the enamel displayed an irregular arrangement of prisms. The enamel and the dentin had an abnormal protein structure and the dentin protein content was low.The mucopolysaccharidoses (MPS) are prominent among the lysosomal storage diseases. The intra-lysosomal accumulation of glycosaminoglycans (GAGs) in this group of diseases induces a cascade of responses affecting cellular functions and maintenance of the extra-cellular matrix.ConclusionAs well as skeletal problems, mucopolysaccharidoses’ patients have dental with specific deformities.Teeth involvement is highlighted, having an eye to the possibilities of reversing these oro-dental changes with enzyme replacement therapy.