Case report
Neonatal severe intractable diarrhoea as the presenting
manifestation of an unclassified congenital disorder of glycosylation
(CDG-x)
K Mentiona, L Michauda, D Dobbelaereb, D Guimbera, F Gottranda, D Turcka
a Division
of Gastroenterology, Hepatology and Nutrition, Lille University Faculty
of Medicine and Children's Hospital, Lille, France, b Division of Metabolic Diseases, Department of
Paediatrics
Correspondence to: Professor Turck, Unité de Gastroentérologie, Hépatologie et Nutrition, Clinique de Pédiatrie, Hôpital Jeanne de Flandre, 2, avenue Oscar Lambret, 59037 Lille Cédex, France dturck{at}chru-lille.fr
Accepted 25 July 2001
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 patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder
of glycosylation type I pattern but the basic defect could not be
identified. This observation shows that congenital disorder of
glycosylation is a cause of intractable diarrhoea in neonates.
Keywords: diarrhoea; protein losing enteropathy; hepatic insufficiency; neurological impairment
© 2001 by Archives of Disease in Childhood
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