K. Mention et al., Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x), ARCH DIS CH, 85(3), 2001, pp. F217-F219
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.