Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

Milena Greczan; Dariusz Rokicki; Dorota Wesół-Kucharska; Magdalena Kaczor; Agata Rawiak; Aleksandra Jezela-Stanek

doi:10.3389/fgene.2022.1019283

Perinatal manifestations of congenital disorders of glycosylation-A clue to early diagnosis

Front Genet. 2022 Dec 13:13:1019283. doi: 10.3389/fgene.2022.1019283. eCollection 2022.

Authors

Milena Greczan¹, Dariusz Rokicki¹, Dorota Wesół-Kucharska¹, Magdalena Kaczor¹, Agata Rawiak¹, Aleksandra Jezela-Stanek²

Affiliations

¹ Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland.
² Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Disease, Warsaw, Poland.

Abstract

N-glycosylation defects-isolated or mixed with other glycosylation defects-are the most frequent congenital disorders of glycosylation and present mostly in childhood, with a specific combination of non-specific phenotypic features. The diagnosis, however, is often delayed. The aim of this study is to describe the perinatal phenotype of congenital disorders of N-glycosylation. We present an analysis of perinatal symptoms in a group of 24 one-center Polish patients with N-glycosylation defects-isolated or mixed. The paper expands the perinatal phenotype of CDGs and shows that some distinctive combinations of symptoms present in the perinatal period should raise a suspicion of CDGs in a differential diagnosis.

Keywords: CDG (congenital disorders of glycosylation); dysmorphia; effusion; glycosylation; hydrops fetalis; thrombocytopenia.