一名先天性糖基化障碍患者出现复发性心包积液。
A case of congenital disorder of glycosylation ia presented with recurrent pericardial effusion.
作者信息
Işıkay Sedat, Başpınar Osman, Yılmaz Kutluhan
机构信息
Department of Pediatric Neurology.
Department of Pediatric Cardiology, Gaziantep Children's Hospital, Gaziantep.
出版信息
Iran J Pediatr. 2014 Oct;24(5):652-4. Epub 2014 Jul 19.
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.
背景
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。
病例报告
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。
结论
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。
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