Clinical Presentation of Mucopolysaccharidosis Type II (Hunter’s Syndrome)
| Autor: | Hina Agrawal, Rajkumar M. Meshram, Samadhan Dhakne, S. Abhisheik |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
medicine.medical_specialty
Pediatrics S syndrome medicine.diagnostic_test Coarse facial features business.industry Mucopolysaccharidosis Physical examination Hunter syndrome General Medicine medicine.disease Surgery Inguinal hernia medicine Presentation (obstetrics) Mucopolysaccharidosis type II business |
| Zdroj: | Scholars Journal of Medical Case Reports. 4:394-397 |
| ISSN: | 2347-6559 2347-9507 |
| DOI: | 10.21276/sjmcr.2016.4.6.10 |
| Popis: | We present a very rare case of mucopolysaccharidosis with atypical presentation such as severe mental retardation, dolicocephalic head, a coarse facial features, no corneal clouding with inguinal hernia. The purpose of presenting this case is to highlight the distinctive manifestation of Hunter Syndrome. Based on thorough clinical examination and radiological survey it is possible to diagnose a case of mucopolysaccharidosis. Multidisciplinary approach will go a long way to manage the patient holistically. |
| Databáze: | OpenAIRE |
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