| A rare congenital disorder of glycosylation with characteristics of infantile onset of global developmental delay, severe intellectual disability, hypotonia and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections and osteopenia among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialotransferrin and increased asialotransferrin, monosialotransferrin, disialotransferrin, and trisialotransferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy. |
