Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report
<p>Abstract</p> <p>Introduction</p> <p>We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive mani...
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| Format: | Article |
| Language: | English |
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BMC
2010-05-01
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| Series: | Journal of Medical Case Reports |
| Online Access: | http://www.jmedicalcasereports.com/content/4/1/154 |
| _version_ | 1811284895359565824 |
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| author | Sharma Subodh Mahal Tania Shah Gauri |
| author_facet | Sharma Subodh Mahal Tania Shah Gauri |
| author_sort | Sharma Subodh |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Introduction</p> <p>We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome).</p> <p>Case presentation</p> <p>A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation.</p> <p>Conclusion</p> <p>Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis.</p> <p>Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.</p> |
| first_indexed | 2024-04-13T02:36:26Z |
| format | Article |
| id | doaj.art-16641381d3094e1282ddab2ccac40a15 |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-04-13T02:36:26Z |
| publishDate | 2010-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-16641381d3094e1282ddab2ccac40a152022-12-22T03:06:22ZengBMCJournal of Medical Case Reports1752-19472010-05-014115410.1186/1752-1947-4-154Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case reportSharma SubodhMahal TaniaShah Gauri<p>Abstract</p> <p>Introduction</p> <p>We present a very rare case of mucopolysaccharidosis with atypical presentation such as mild mental retardation, an acrocephalic head and no corneal clouding. The purpose of presenting this case is to highlight the distinctive manifestation of mucopolysaccharidosis type II (Hunter syndrome).</p> <p>Case presentation</p> <p>A 10-year-old East Asian boy presented with abdominal distension of five years' duration and complained of shortness of breath on and off for the same period. On examination his head was large and his head circumference was 54.5 cm. His neck was short, he had coarse facial features, a depressed nasal bridge and small stubby fingers with flexion of distal interphalangeal joints, and a low arched palate was observed. There was mild mental retardation.</p> <p>Conclusion</p> <p>Based on clinical findings and radiological features it is possible to diagnose a case of mucopolysaccharidosis.</p> <p>Careful and systemic approach is needed to accurately diagnose the exact type as enzymatic studies are not available in most centers.</p>http://www.jmedicalcasereports.com/content/4/1/154 |
| spellingShingle | Sharma Subodh Mahal Tania Shah Gauri Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report Journal of Medical Case Reports |
| title | Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report |
| title_full | Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report |
| title_fullStr | Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report |
| title_full_unstemmed | Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report |
| title_short | Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report |
| title_sort | atypical clinical presentation of mucopolysaccharidosis type ii hunter syndrome a case report |
| url | http://www.jmedicalcasereports.com/content/4/1/154 |
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