title: [Neonatal diarrhea due to congenital glucose-galactose malabsorption: report of seven cases].
abstract: Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder, which presents as a protracted diarrhea in early neonatal life. We describe the clinical history, diagnostic evaluation, and management of 7 children with CGGM in western France. There were 4 girls and 3 boys from 5 families, born between 1984 and 2010. The principal complaint was a neonatal onset of watery and acidic severe diarrhea complicated by hypertonic dehydration. The diarrhea stopped with fasting. In 2 cases, the family history supported the diagnosis. In the other cases, elimination of glucose and galactose (lactose) from the diet resulted in the complete resolution of diarrhea symptoms. In 2 cases, the H2 breath tests were positive. In 2 cases, the HGPO or oral glucose tolerance test (OGTT) demonstrated an abnormal curve with glucose and a normal curve with fructose. DNA sequencing was not used. When glucose and galactose were eliminated from the diet, the infants had normal growth and development. In conclusion, CGGM is a rare etiology of neonatal diarrhea; however, the diagnosis is easy to make and the prognosis is excellent.
authors.affiliation: Service de pédiatrie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France.
authors.forename: C
authors.initials: C
authors.lastname: Chedane-Girault
authors.forename: A
authors.initials: A
authors.lastname: Dabadie
authors.forename: C
authors.initials: C
authors.lastname: Maurage
authors.forename: H
authors.initials: H
authors.lastname: Piloquet
authors.forename: E
authors.initials: E
authors.lastname: Chailloux
authors.forename: E
authors.initials: E
authors.lastname: Colin
authors.forename: C
authors.initials: C
authors.lastname: Pelatan
authors.forename: J-L
authors.initials: JL
authors.lastname: Giniès
mesh_terms: D002675:Child, Preschool; D003968:Diarrhea, Infantile / Q000209:etiology*; D005260:Female; D005690:Galactose / Q000378:metabolism*; D005947:Glucose / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008286:Malabsorption Syndromes / Q000151:congenital* / Q000178:diet therapy; D008297:Male
chemical_list: D005947:Glucose; D005690:Galactose