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

被引：11

作者：

Mention, K

Michaud, L

Dobbelaere, D

Guimber, D

Gottrand, F

Turck, D

机构：

[1] Univ Lille, Fac Med, Div Gastroenterol Hepatol & Nutr, Lille, France

[2] Univ Lille, Fac Med, Div Metab Dis, Dept Paediat, Lille, France

[3] Childrens Hosp, Lille, France

来源：

ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION | 2001年 / 85卷 / 03期

关键词：

diarrhoea; protein losing enteropathy; hepatic insufficiency; neurological impairment;

D O I：

10.1136/fn.85.3.F217

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

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收藏

页码：F217 / F219

页数：3

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