Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
e-ISSN 3117-5341
Image Credit:Inn J Pediatr
Outline
A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion
Authors
Published online:Jul 19, 2014
Article type:Case Report
Received:Aug 12, 2013
Accepted:Jul 09, 2014
How to Cite:Işıkay S, Başpınar O, Yılmaz K. A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion. Inn J Pediatr. 2014;24(5):. doi:
Abstract
Background: Inherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia. Case Presentation: Herein, we describe a case of congenital disorder of glycosylation Ia, presented with recurrent pericardial effusion and unusual findings of inverted nipples, fat pads, reduced deep-tendon reflexes and multisystem involvement. Conclusion: Congenital Disorder of Glycosylation Ia should be considered in children with developmental delay, those with multi-system disease involving neurologic, gastrointestinal, ophthalmologic, cardiac or endocrine systems. On the other hand, severe cardiac involvement may also be a feature of Congenital Disorder of Glycosylation Ia and diagnosed patients should also be evaluated in this respect.
Highlights
References
- 1.References are available on the PDF.
Copyright
© 2014, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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