Işıkay Sedat, Başpınar Osman, Yılmaz Kutluhan
Department of Pediatric Neurology.
Department of Pediatric Cardiology, Gaziantep Children's Hospital, Gaziantep.
Iran J Pediatr. 2014 Oct;24(5):652-4. Epub 2014 Jul 19.
Inherited deficiency of phosophomannomutase (PMM2) causes a human glycosylation disorder known as Congenital Disorder of Glycosylation Ia.
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.
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.
磷酸甘露糖变位酶（PMM2）遗传性缺乏会导致一种人类糖基化障碍，称为先天性糖基化障碍Ia型。
在此，我们描述了一例先天性糖基化障碍Ia型病例，表现为复发性心包积液以及乳头内陷、脂肪垫、深部腱反射减弱和多系统受累等异常表现。
对于发育迟缓、患有涉及神经、胃肠、眼科、心脏或内分泌系统的多系统疾病的儿童，应考虑先天性糖基化障碍Ia型。另一方面，严重的心脏受累也可能是先天性糖基化障碍Ia型的一个特征，对已确诊的患者也应在这方面进行评估。
