A Rare Case of Mucopolysaccharidosis: Hunter Syndrome
Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2015-04-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/5858/13251_CE(RA1)_F(T)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdf |
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| author | Jayaprasad Anekar Deepa Narayanan C. Raj A.C. Sandeepa N.C. Deepika Nappalli |
| author_facet | Jayaprasad Anekar Deepa Narayanan C. Raj A.C. Sandeepa N.C. Deepika Nappalli |
| author_sort | Jayaprasad Anekar |
| collection | DOAJ |
| description | Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed
mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The
prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the
lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy
who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical
and radiological examination alone can help in diagnosis of this complex disorder. |
| first_indexed | 2024-04-13T02:42:09Z |
| format | Article |
| id | doaj.art-8119a24ea0294b098816501d50232615 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-04-13T02:42:09Z |
| publishDate | 2015-04-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-8119a24ea0294b098816501d502326152022-12-22T03:06:09ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2015-04-0194ZD23ZD2610.7860/JCDR/2015/13251.5858A Rare Case of Mucopolysaccharidosis: Hunter SyndromeJayaprasad Anekar0Deepa Narayanan C.1Raj A.C.2Sandeepa N.C.3Deepika Nappalli4Professor and Head, Department of Oral Medicine and Radiology, KVG Dental College and Hospital, Sullia, Karnataka, India.Post Graduate Student, Department of Oral Medicine and Radiology, KVG Dental College and Hospital, Sullia, Karnataka, India.Professor, Department of Oral Medicine and Radiology, KVG Dental College and Hospital, Sullia, Karnataka, India.Senior Lecturer, Department of Oral Medicine and Radiology, KVG Dental College and Hospital, Sullia, Karnataka, India.Senior Lecturer, Department of Oral Medicine and Radiology, KVG Dental College and Hospital, Sullia, Karnataka, India.Hunter syndrome, or mucopolysaccharidosis type II (MPS II), is a member of a group of inherited metabolic disorders together termed mucopolysaccharidosis (MPSs). It is a rare, X-linked disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase. The prevalence of this syndrome is 1:100,000 births. Insufficient enzyme activity results in accumulation of glycosaminoglycans (GAGS) in the lysosomes of various tissues and organs and leading to progressive multisystem pathologies. Here, we report a case of 13-year-old boy who presented with typical facial, skeletal and dental features without corneal clouding. It is possible that thorough and systematic clinical and radiological examination alone can help in diagnosis of this complex disorder.https://jcdr.net/articles/PDF/5858/13251_CE(RA1)_F(T)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdfcoarse facial featuresdelayed eruptionmacroglossia |
| spellingShingle | Jayaprasad Anekar Deepa Narayanan C. Raj A.C. Sandeepa N.C. Deepika Nappalli A Rare Case of Mucopolysaccharidosis: Hunter Syndrome Journal of Clinical and Diagnostic Research coarse facial features delayed eruption macroglossia |
| 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 | coarse facial features delayed eruption macroglossia |
| url | https://jcdr.net/articles/PDF/5858/13251_CE(RA1)_F(T)_PF1(AGAK)_PFA(AK)_PF2(PAG).pdf |
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