  |
|
 |
|
Case Report
| ||||||
| Hunter syndrome presenting as heart failure: A case report | ||||||
| Asutosh Biswas1, Prajowl Shrestha2 | ||||||
|
1MD, Additional Professor, Department of Medicine, All India Institute of Medical sciences, New Delhi, Delhi, India.
2MD, Resident, Department of Medicine, All India Institute of Medical sciences, New Delhi, Delhi, India. | ||||||
| ||||||
|
[HTML Full Text]
[PDF Full Text]
[Print This Article]
[Similar article in Pumed] [Similar article in Google Scholar] 
|
| How to cite this article: |
| Biswas A, Shrestha P. Hunter's syndrome presenting as heart failure: A case report. International Journal of Case Reports and Images 2013;4(6):321–325. |
|
Abstract
|
|
Introduction:
Hunter syndrome (Mucopolysaccharidosis type II, MPS II) is a genetic disorder associated with deficiency of lysosomal enzyme iduronate-2-sulfatase and impairment of glycosaminoglycans (GAGs) metabolism. Hunter syndrome is well described in medical literature but less is known about heart failure. We are presenting a rare case of Hunter-syndrome with heart failure.
Case Report: A 17-year-old boy presented to emergency department with chief complaint of dyspnea on exertion for last seven days. He also had history of progressive abdominal swelling since five years of age. On examination, he was tachypneic with raised jugular venous pressure and bilateral pitting pedal edema. His head was dolicocephalic in shape with coarse facial features. His abdomen was distended with hepatosplenomegaly and an umbilical hernia. He has one younger brother with similar clinical profile and one normal younger sister. Suspecting mucopolysaccharidosis, we performed a skeletal survey. A lateral X-ray of the skull showed an enlarged and J-shaped sella turcica. Patient’s and his brother's enzyme assays for iduronate-2-sulfatase were markedly low. Based on the clinicoradiological and enzyme assay diagnosis of Hunter syndrome (MPS II) was made. Conclusion: Various clinical and radiological features are typical of MPS II. A detailed clinical evaluation and radiological investigations help in diagnosis of MPS II. The enzyme assay is required to confirm the diagnosis. | |
|
Keywords:
Mucopolysaccharidosis, Hunter syndrome, Iduronate-2-sulfatase
| |
|
[HTML Full Text]
[PDF Full Text]
|
|
Author Contributions
Asutosh Biswas – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published Prajowl Shrestha – Substantial contributions to conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published |
|
Guarantor of submission
The corresponding author is the guarantor of submission. |
|
Source of support
None |
|
Conflict of interest
Authors declare no conflict of interest. |
|
Copyright
© Asutosh Biswas et al. 2013; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.) |
|
|