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Hunter Syndrome Diagnosed by Otorhinolaryngologist

Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is...

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Detalles Bibliográficos
Autores principales: Hashimoto, Ayako, Kumagai, Tadayuki, Mineta, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971261/
https://www.ncbi.nlm.nih.gov/pubmed/29862106
http://dx.doi.org/10.1155/2018/4252696
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author Hashimoto, Ayako
Kumagai, Tadayuki
Mineta, Hiroyuki
author_facet Hashimoto, Ayako
Kumagai, Tadayuki
Mineta, Hiroyuki
author_sort Hashimoto, Ayako
collection PubMed
description Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.
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spelling pubmed-59712612018-06-03 Hunter Syndrome Diagnosed by Otorhinolaryngologist Hashimoto, Ayako Kumagai, Tadayuki Mineta, Hiroyuki Case Rep Otolaryngol Case Report Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy. Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis. The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders. Hindawi 2018-05-13 /pmc/articles/PMC5971261/ /pubmed/29862106 http://dx.doi.org/10.1155/2018/4252696 Text en Copyright © 2018 Ayako Hashimoto et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Hashimoto, Ayako
Kumagai, Tadayuki
Mineta, Hiroyuki
Hunter Syndrome Diagnosed by Otorhinolaryngologist
title Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_full Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_fullStr Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_full_unstemmed Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_short Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_sort hunter syndrome diagnosed by otorhinolaryngologist
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5971261/
https://www.ncbi.nlm.nih.gov/pubmed/29862106
http://dx.doi.org/10.1155/2018/4252696
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