title: A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.
abstract: BACKGROUND
  Inherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatric Neurology.
authors: Sedat
authors: S
authors: Işıkay
authors: Department of Pediatric Cardiology, Gaziantep Children's Hospital, Gaziantep.
authors: Osman
authors: O
authors: Başpınar
authors: Department of Pediatric Neurology, Medeniyet University, İstanbul, Turkey.
authors: Kutluhan
authors: K
authors: Yılmaz
keywords: Congenital Disorder of Glycosylation Ia; Dysmorphia; Inborn Error of Metabolism; Pericardial Effusion