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