title: A rare case of mucopolysaccharidosis: hunter syndrome.
abstract: Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder.
authors.affiliation: Professor and Head, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .
authors.forename: Jayaprasad
authors.initials: J
authors.lastname: Anekar
authors.affiliation: Post Graduate Student, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .
authors.forename: Deepa Narayanan
authors.initials: DN
authors.lastname: C
authors.affiliation: Professor, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .
authors.forename: Raj
authors.initials: R
authors.lastname: A C
authors.affiliation: Senior Lecturer, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .
authors.forename: Sandeepa
authors.initials: S
authors.lastname: N C
authors.affiliation: Senior Lecturer, Department of Oral Medicine and Radiology, KVG Dental College and Hospital , Sullia, Karnataka, India .
authors.forename: Deepika
authors.initials: D
authors.lastname: Nappalli
keywords: Coarse facial features; Delayed eruption; Macroglossia