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

AUTHORS

Sedat Işıkay 1 , * , Osman Başpınar 2 , Kutluhan Yılmaz 3

How to Cite: Işıkay S , Başpınar O , Yılmaz K . A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion, Iran J Pediatr. 2014 ; 24(5):652-654.

ARTICLE INFORMATION

Iranian Journal of Pediatrics: 24 (5); 652-654
Published Online: July 19, 2014
Article Type: Case Report
Received: August 12, 2013
Accepted: July 09, 2014

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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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