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[Neonatal diarrhea due to congenital glucose-galactose malabsorption: report of seven cases]

C Chedane-Girault1, A Dabadie, C Maurage

  • 1Service de pédiatrie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 9, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|October 31, 2012
PubMed

Insights

Congenital glucose-galactose malabsorption (CGGM) is a rare cause of severe neonatal diarrhea. Dietary elimination of glucose and galactose leads to normal growth and development, indicating an excellent prognosis.

Area of Science:

  • Pediatric Gastroenterology
  • Metabolic Disorders
  • Genetics

Context:

  • Congenital glucose-galactose malabsorption (CGGM) is a rare autosomal recessive disorder.
  • Presents as severe, protracted diarrhea in early neonatal life, often leading to hypertonic dehydration.
  • This study reviews 7 cases in western France from 1984-2010.

Purpose:

  • To describe the clinical history, diagnostic evaluation, and management of children with CGGM.
  • To highlight the diagnostic challenges and successful treatment strategies for this rare condition.

Summary:

  • Seven children (4 girls, 3 boys) from 5 families presented with neonatal onset of watery, acidic diarrhea and dehydration.
  • Diarrhea resolved with fasting and upon elimination of glucose and galactose from the diet.
  • Diagnostic tools included family history, H2 breath tests, and oral glucose tolerance tests (OGTT) showing abnormal glucose curves.
  • DNA sequencing was not utilized in these cases.

Impact:

  • CGGM is a rare but diagnosable cause of neonatal diarrhea.
  • Dietary management (eliminating glucose and galactose) ensures normal growth and development.
  • Early diagnosis and appropriate dietary intervention lead to an excellent prognosis for affected infants.

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