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

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.