Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the p atient died at 2 years of age. Isoelectric focusing of serum transferrin sh owed a congenital disorder of glycosylation type I pattern but the basic de fect could not be identified. This observation shows that congenital disord er of glycosylation is a cause of intractable diarrhoea in neonates.