Hunter Syndrome Diagnosed by Otorhinolaryngologist

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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Main Authors: Ayako Hashimoto, Tadayuki Kumagai, Hiroyuki Mineta
Format: Article
Language:English
Published: Hindawi Limited 2018-01-01
Series:Case Reports in Otolaryngology
Online Access:http://dx.doi.org/10.1155/2018/4252696
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spelling doaj-e23066bca4dd4467b89f994f9d82f3f22020-11-24T22:54:27ZengHindawi LimitedCase Reports in Otolaryngology2090-67652090-67732018-01-01201810.1155/2018/42526964252696Hunter Syndrome Diagnosed by OtorhinolaryngologistAyako Hashimoto0Tadayuki Kumagai1Hiroyuki Mineta2Department of Otorhinolaryngology, Shizuoka Children’s Hospital, Shizuoka, JapanDepartment of Pediatrics, Fujieda City General Hospital, Fujieda, JapanDepartment of Otorhinolaryngology, Head and Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, JapanHunter 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.http://dx.doi.org/10.1155/2018/4252696
collection DOAJ
language English
format Article
sources DOAJ
author Ayako Hashimoto
Tadayuki Kumagai
Hiroyuki Mineta
spellingShingle Ayako Hashimoto
Tadayuki Kumagai
Hiroyuki Mineta
Hunter Syndrome Diagnosed by Otorhinolaryngologist
Case Reports in Otolaryngology
author_facet Ayako Hashimoto
Tadayuki Kumagai
Hiroyuki Mineta
author_sort Ayako Hashimoto
title Hunter Syndrome Diagnosed by Otorhinolaryngologist
title_short 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_sort hunter syndrome diagnosed by otorhinolaryngologist
publisher Hindawi Limited
series Case Reports in Otolaryngology
issn 2090-6765
2090-6773
publishDate 2018-01-01
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.
url http://dx.doi.org/10.1155/2018/4252696
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AT tadayukikumagai huntersyndromediagnosedbyotorhinolaryngologist
AT hiroyukimineta huntersyndromediagnosedbyotorhinolaryngologist
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