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      A rare case of mucopolysaccharidosis: Hunter syndrome

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          Abstract

          We report a rare case of Hunter syndrome—mucopolysaccharidosis type II (MPS II) with atypical presentation of mild mental retardation, acrocephalic head without corneal clouding, and multiple skin eruptions along with oral, dental, and radiographic findings. It is a rare syndrome with a very low prevalence of 1:100,000 births and as such the clinician should be aware of this syndrome.

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          Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

          J. Wraith, Maurizio Scarpa, Michael Beck … (2007)
          Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive disease caused by deficiency of the lysosomal enzyme iduronate-2-sulphatase, leading to progressive accumulation of glycosaminoglycans in nearly all cell types, tissues and organs. Clinical manifestations include severe airway obstruction, skeletal deformities, cardiomyopathy and, in most patients, neurological decline. Death usually occurs in the second decade of life, although some patients with less severe disease have survived into their fifth or sixth decade. Until recently, there has been no effective therapy for MPS II, and care has been palliative. Enzyme replacement therapy (ERT) with recombinant human iduronate-2-sulphatase (idursulfase), however, has now been introduced. Weekly intravenous infusions of idursulfase have been shown to improve many of the signs and symptoms and overall wellbeing in patients with MPS II. This paper provides an overview of the clinical manifestations, diagnosis and symptomatic management of patients with MPS II and provides recommendations for the use of ERT. The issue of treating very young patients and those with CNS involvement is also discussed. ERT with idursulfase has the potential to benefit many patients with MPS II, especially if started early in the course of the disease.
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            Mucopolysaccharidosis type II in females: case report and review of literature.

            S Kircher, Eduard Paschke, Andreas Gal … (2005)
            Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in heterozygous form. Mucopolysaccharidosis type II is inherited in an X-linked recessive manner and consequently females are rare. The disease phenotype in this case is due to complete unilateral inactivation of the nonmutant paternal X chromosome of the patient. The case presented here underscores the fact that a diagnosis of mucopolysaccharidosis type II should be suspected in any female who presents with the relevant clinical symptoms.
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              A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms.

              Danielle Young, Frederick I. Archer, John Newcombe … (1982)
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Nat Sci Biol Med
                Journal ID (iso-abbrev): J Nat Sci Biol Med
                Journal ID (publisher-id): JNSBM
                Title: Journal of Natural Science, Biology, and Medicine
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 0976-9668
                ISSN (Electronic): 2229-7707
                Publication date (Print): Jan-Jun 2012
                Volume: 3
                Issue: 1
                Pages: 97-100
                Affiliations
                [1] Department of Pediatrics and Preventive dentistry, Indira Gandhi Institute of Dental Sciences, Pondichery, India
                [1 ] Department of Oral Pathology and Microbiology, Surendera Dental College and Research Institute, Sriganganagar, Rajasthan, India
                [2 ] Professor of Oral Surgery and Consultant Maxillofacial Surgeon, Suraksha Dental Specialities, Bangalore, India
                Author notes
                Address for correspondence: Dr. R. Karthikeyan Ramalingam, Reader/Associate professor, Department of Oral Pathology and Microbiology, Surendera Dental College and Research Institute, Sriganganagar, Rajasthan – 335 001, India. E-mail: drrkn79@ 123456gmail.com
                Article
                Publisher ID: JNSBM-3-97
                DOI: 10.4103/0976-9668.95984
                PMC ID: 3361789
                PubMed ID: 22690062
                SO-VID: ed589e88-e4b9-4a56-ba3d-558c2c55fcf3
                Copyright © Copyright: © Journal of Natural Science, Biology and Medicine
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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                Categories
                Subject: Case Report

                ScienceOpen disciplines: Life sciences
                Keywords: hunter syndrome,mucopolysaccharidosis,skin eruptions
                Data availability:
                ScienceOpen disciplines: Life sciences
                Keywords: hunter syndrome, mucopolysaccharidosis, skin eruptions

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