A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion

Sedat  Işıkay; Osman  Başpınar; Kutluhan  Yılmaz

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion

Author(s):

Sedat Işıkay^1,*,

Osman Başpınar²,

Kutluhan Yılmaz³

IJ Pediatrics:Vol. 24, issue 5; 652-654

Published online:Jul 19, 2014

Article type:Case Report

Received:Aug 12, 2013

Accepted:Jul 09, 2014

How to Cite:Sedat IşıkayOsman BaşpınarKutluhan YılmazA Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion.Iran J Pediatr.24(5):652-654.

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.

Keywords

Congenital Disorder of Glycosylation Ia

Pericardial Effusion

Inborn Error of Metabolism

Dysmorphia

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