A rare case of mucopolysaccharidosis: Hunter syndrome

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 pre...

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Detalles Bibliográficos
Autores principales: Gajula, Prathima, Ramalingam, Karthikeyan, Bhadrashetty, Dinesh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361789/
https://www.ncbi.nlm.nih.gov/pubmed/22690062
http://dx.doi.org/10.4103/0976-9668.95984
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author Gajula, Prathima
Ramalingam, Karthikeyan
Bhadrashetty, Dinesh
author_facet Gajula, Prathima
Ramalingam, Karthikeyan
Bhadrashetty, Dinesh
author_sort Gajula, Prathima
collection PubMed
description 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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spelling pubmed-33617892012-06-11 A rare case of mucopolysaccharidosis: Hunter syndrome Gajula, Prathima Ramalingam, Karthikeyan Bhadrashetty, Dinesh J Nat Sci Biol Med Case Report 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. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3361789/ /pubmed/22690062 http://dx.doi.org/10.4103/0976-9668.95984 Text en Copyright: © Journal of Natural Science, Biology and Medicine http://creativecommons.org/licenses/by-nc-sa/3.0 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.
spellingShingle Case Report
Gajula, Prathima
Ramalingam, Karthikeyan
Bhadrashetty, Dinesh
A rare case of mucopolysaccharidosis: Hunter syndrome
title A rare case of mucopolysaccharidosis: Hunter syndrome
title_full A rare case of mucopolysaccharidosis: Hunter syndrome
title_fullStr A rare case of mucopolysaccharidosis: Hunter syndrome
title_full_unstemmed A rare case of mucopolysaccharidosis: Hunter syndrome
title_short A rare case of mucopolysaccharidosis: Hunter syndrome
title_sort rare case of mucopolysaccharidosis: hunter syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3361789/
https://www.ncbi.nlm.nih.gov/pubmed/22690062
http://dx.doi.org/10.4103/0976-9668.95984
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