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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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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. |
format | Online Article Text |
id | pubmed-5971261 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT hashimotoayako huntersyndromediagnosedbyotorhinolaryngologist AT kumagaitadayuki huntersyndromediagnosedbyotorhinolaryngologist AT minetahiroyuki huntersyndromediagnosedbyotorhinolaryngologist |