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

authors:

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

Iranian Journal of Pediatrics: Vol.24, issue 5; 652-654
published online: July 19, 2014
article type: Case Report
received: August 12, 2013
accepted: July 09, 2014

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. 

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.
 

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