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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 2008-2150
Vol. 24, No. 5, 2014, pp. 652-654
Bioline Code: pe14105
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 24, No. 5, 2014, pp. 652-654

 en A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion
Işıkay, Sedat; Başpınar, Osman & Yılmaz, Kutluhan


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.

Congenital Disorder of Glycosylation Ia; Pericardial Effusion; Inborn Error of Metabolism; Dysmorphia

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