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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© 2014, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.