Abstract.
Congenital disorders of glycosylation (CDG) are a group of rare
metabolic diseases, characterized by a defect in the protein
glycosylation process. Enzymes involved in this metabolic mechanism have
ubiquitous distribution thus their alteration can cause systemic
involvement and considerable phenotypic variability. Nephrotic syndrome
(NS) is a clinical condition characterized by oedema, hypoalbuminemia,
hyperlipidemia and proteinuria. We hereby report the case of a girl with
central hypotonia, epilepsy and severe psychomotor delay diagnosed with
phosphomannomutase 2 deficiency (PMM2-CDG) after presenting with
nephrotic syndrome at age 4 years.